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Polycystic kidney disease protein 1-like 2 (PC1-like 2 protein) (Polycystin-1L2)

 PK1L2_HUMAN             Reviewed;        2459 AA.
Q7Z442; Q6UEE1; Q6ZN46; Q6ZSP2; Q8N1H9; Q96CL2; Q96Q08;
26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
11-JAN-2011, sequence version 4.
22-NOV-2017, entry version 137.
RecName: Full=Polycystic kidney disease protein 1-like 2;
AltName: Full=PC1-like 2 protein;
AltName: Full=Polycystin-1L2;
Flags: Precursor;
Name=PKD1L2; Synonyms=KIAA1879, PC1L2;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ALTERNATIVE SPLICING, TISSUE
SPECIFICITY, AND VARIANTS ARG-73; ASN-77; ILE-183; ALA-301; PRO-711;
VAL-863; PHE-2139 AND ILE-2315.
TISSUE=Testis;
PubMed=12782129; DOI=10.1016/S0888-7543(03)00048-X;
Li A., Tian X., Sung S.-W., Somlo S.;
"Identification of two novel polycystic kidney disease-1-like genes in
human and mouse genomes.";
Genomics 81:596-608(2003).
[2]
ERRATUM.
Li A., Tian X., Sung S.-W., Somlo S.;
Genomics 82:498-500(2003).
[3]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION, SUBUNIT, ALTERNATIVE
SPLICING, INTERACTION WITH GNAS AND GNAI1, AND VARIANTS PRO-1326;
ASP-1330; ARG-2036; LEU-2046; THR-2055; PHE-2139 AND ARG-2209.
PubMed=15203210; DOI=10.1016/j.ygeno.2004.02.008;
Yuasa T., Takakura A., Denker B.M., Venugopal B., Zhou J.;
"Polycystin-1L2 is a novel G-protein-binding protein.";
Genomics 84:126-138(2004).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6), NUCLEOTIDE
SEQUENCE [LARGE SCALE MRNA] OF 474-2459 (ISOFORM 3), NUCLEOTIDE
SEQUENCE [LARGE SCALE MRNA] OF 2079-2459 (ISOFORMS 1/2/3/4), AND
VARIANTS PRO-711; PHE-2139; ARG-2209 AND ILE-2315.
TISSUE=Amygdala, Hippocampus, and Kidney;
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 553-2016 (ISOFORM 1), AND
VARIANTS PRO-711; VAL-863; PRO-1326; ASP-1330; VAL-1331 AND VAL-1867.
TISSUE=Brain;
PubMed=11572484; DOI=10.1093/dnares/8.4.179;
Nagase T., Kikuno R., Ohara O.;
"Prediction of the coding sequences of unidentified human genes. XXI.
The complete sequences of 60 new cDNA clones from brain which code for
large proteins.";
DNA Res. 8:179-187(2001).
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15616553; DOI=10.1038/nature03187;
Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X.,
Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A.,
Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.,
Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L.,
Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A.,
Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D.,
Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J.,
Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M.,
Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I.,
Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W.,
Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A.,
Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S.,
Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J.,
Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D.,
Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L.,
Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A.,
Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L.,
Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N.,
Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M.,
Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L.,
Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D.,
Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P.,
Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M.,
Rubin E.M., Pennacchio L.A.;
"The sequence and analysis of duplication-rich human chromosome 16.";
Nature 432:988-994(2004).
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4), AND VARIANT
PRO-711.
TISSUE=Skin;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
-!- FUNCTION: May function as an ion-channel regulator. May function
as a G-protein-coupled receptor. {ECO:0000269|PubMed:15203210}.
-!- SUBUNIT: May interact via its C-terminus with GNAS and GNAI1.
{ECO:0000269|PubMed:15203210}.
-!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
protein {ECO:0000305}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=5;
Name=1;
IsoId=Q7Z442-1; Sequence=Displayed;
Name=2; Synonyms=Long isoform;
IsoId=Q7Z442-2; Sequence=VSP_031942;
Name=3;
IsoId=Q7Z442-3; Sequence=VSP_031946, VSP_031948;
Name=4;
IsoId=Q7Z442-4; Sequence=VSP_031942, VSP_031946, VSP_031948;
Note=No experimental confirmation available.;
Name=6;
IsoId=Q7Z442-6; Sequence=VSP_031942, VSP_031944, VSP_031945,
VSP_031947;
Note=No experimental confirmation available.;
-!- TISSUE SPECIFICITY: Expressed in all tissues tested including
brain, placenta, mammary gland, testis, lung and liver. Highest
expression in skeletal muscle. Isoform 2 is expressed in heart and
kidney. {ECO:0000269|PubMed:12782129}.
-!- DEVELOPMENTAL STAGE: Expressed in fetal heart.
-!- SIMILARITY: Belongs to the polycystin family. {ECO:0000305}.
-!- SEQUENCE CAUTION:
Sequence=AAQ73173.1; Type=Frameshift; Positions=2113, 2117; Evidence={ECO:0000305};
Sequence=BAB67772.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};
Sequence=BAC05222.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Sequence=BAD18529.1; Type=Erroneous translation; Note=Wrong CDS prediction.; Evidence={ECO:0000305};
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EMBL; AY164483; AAO32796.1; -; mRNA.
EMBL; AY371495; AAQ73173.1; ALT_FRAME; mRNA.
EMBL; AB067466; BAB67772.1; ALT_SEQ; mRNA.
EMBL; AK098052; BAC05222.1; ALT_INIT; mRNA.
EMBL; AK127266; BAC86906.1; -; mRNA.
EMBL; AK131378; BAD18529.1; ALT_SEQ; mRNA.
EMBL; AC092718; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AC131888; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC004562; AAH04562.1; -; mRNA.
EMBL; BC014157; AAH14157.1; -; mRNA.
CCDS; CCDS61999.1; -. [Q7Z442-4]
RefSeq; NP_001070248.1; NM_001076780.1. [Q7Z442-3]
RefSeq; NP_001265352.1; NM_001278423.1. [Q7Z442-4]
RefSeq; NP_001265354.1; NM_001278425.1.
RefSeq; NP_443124.3; NM_052892.3.
UniGene; Hs.413525; -.
SMR; Q7Z442; -.
BioGrid; 125342; 1.
IntAct; Q7Z442; 1.
STRING; 9606.ENSP00000469432; -.
MEROPS; P02.038; -.
iPTMnet; Q7Z442; -.
PhosphoSitePlus; Q7Z442; -.
BioMuta; PKD1L2; -.
DMDM; 317373538; -.
EPD; Q7Z442; -.
PaxDb; Q7Z442; -.
PeptideAtlas; Q7Z442; -.
PRIDE; Q7Z442; -.
DNASU; 114780; -.
Ensembl; ENST00000337114; ENSP00000337397; ENSG00000166473. [Q7Z442-3]
Ensembl; ENST00000527937; ENSP00000432818; ENSG00000166473. [Q7Z442-6]
Ensembl; ENST00000531391; ENSP00000436309; ENSG00000166473. [Q7Z442-4]
GeneID; 114780; -.
KEGG; hsa:114780; -.
UCSC; uc002fgi.5; human. [Q7Z442-1]
CTD; 114780; -.
DisGeNET; 114780; -.
EuPathDB; HostDB:ENSG00000166473.16; -.
GeneCards; PKD1L2; -.
H-InvDB; HIX0013271; -.
HGNC; HGNC:21715; PKD1L2.
MIM; 607894; gene.
neXtProt; NX_Q7Z442; -.
OpenTargets; ENSG00000166473; -.
PharmGKB; PA134874396; -.
eggNOG; ENOG410JFZI; Eukaryota.
eggNOG; ENOG410Z7Z0; LUCA.
GeneTree; ENSGT00700000104221; -.
HOVERGEN; HBG108252; -.
InParanoid; Q7Z442; -.
KO; K04988; -.
PhylomeDB; Q7Z442; -.
GenomeRNAi; 114780; -.
PRO; PR:Q7Z442; -.
Proteomes; UP000005640; Chromosome 16.
Bgee; ENSG00000166473; -.
CleanEx; HS_PKD1L2; -.
ExpressionAtlas; Q7Z442; baseline and differential.
Genevisible; Q7Z442; HS.
GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
GO; GO:0016020; C:membrane; IBA:GO_Central.
GO; GO:0005262; F:calcium channel activity; IBA:GO_Central.
GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
GO; GO:0030246; F:carbohydrate binding; IEA:UniProtKB-KW.
GO; GO:0050982; P:detection of mechanical stimulus; IBA:GO_Central.
Gene3D; 2.60.40.10; -; 1.
Gene3D; 2.60.60.20; -; 1.
Gene3D; 3.10.100.10; -; 1.
InterPro; IPR001304; C-type_lectin-like.
InterPro; IPR016186; C-type_lectin-like/link_sf.
InterPro; IPR016187; CTDL_fold.
InterPro; IPR000203; GPS.
InterPro; IPR013783; Ig-like_fold.
InterPro; IPR000922; Lectin_gal-bd_dom.
InterPro; IPR002859; PKD/REJ-like.
InterPro; IPR013122; PKD1_2_channel.
InterPro; IPR003915; PKD_2.
InterPro; IPR001024; PLAT/LH2_dom.
InterPro; IPR036392; PLAT/LH2_dom_sf.
InterPro; IPR014010; REJ_dom.
Pfam; PF02140; Gal_Lectin; 1.
Pfam; PF01825; GPS; 1.
Pfam; PF00059; Lectin_C; 1.
Pfam; PF08016; PKD_channel; 1.
Pfam; PF01477; PLAT; 1.
Pfam; PF02010; REJ; 1.
PRINTS; PR01433; POLYCYSTIN2.
SMART; SM00034; CLECT; 1.
SMART; SM00303; GPS; 1.
SMART; SM00308; LH2; 1.
SUPFAM; SSF49723; SSF49723; 1.
SUPFAM; SSF56436; SSF56436; 1.
PROSITE; PS50041; C_TYPE_LECTIN_2; 1.
PROSITE; PS50221; GPS; 1.
PROSITE; PS50095; PLAT; 1.
PROSITE; PS51111; REJ; 1.
PROSITE; PS50228; SUEL_LECTIN; 1.
1: Evidence at protein level;
Alternative splicing; Complete proteome; Disulfide bond; Glycoprotein;
Ion channel; Ion transport; Lectin; Membrane; Polymorphism;
Reference proteome; Signal; Transmembrane; Transmembrane helix;
Transport.
SIGNAL 1 17 {ECO:0000255}.
CHAIN 18 2459 Polycystic kidney disease protein 1-like
2.
/FTId=PRO_0000322576.
TOPO_DOM 18 1344 Extracellular. {ECO:0000255}.
TRANSMEM 1345 1365 Helical. {ECO:0000255}.
TOPO_DOM 1366 1552 Cytoplasmic. {ECO:0000255}.
TRANSMEM 1553 1573 Helical. {ECO:0000255}.
TOPO_DOM 1574 1594 Extracellular. {ECO:0000255}.
TRANSMEM 1595 1615 Helical. {ECO:0000255}.
TOPO_DOM 1616 1818 Cytoplasmic. {ECO:0000255}.
TRANSMEM 1819 1839 Helical. {ECO:0000255}.
TOPO_DOM 1840 1865 Extracellular. {ECO:0000255}.
TRANSMEM 1866 1886 Helical. {ECO:0000255}.
TOPO_DOM 1887 1943 Cytoplasmic. {ECO:0000255}.
TRANSMEM 1944 1964 Helical. {ECO:0000255}.
TOPO_DOM 1965 2143 Extracellular. {ECO:0000255}.
TRANSMEM 2144 2166 Helical. {ECO:0000255}.
TOPO_DOM 2167 2182 Cytoplasmic. {ECO:0000255}.
TRANSMEM 2183 2203 Helical. {ECO:0000255}.
TOPO_DOM 2204 2218 Extracellular. {ECO:0000255}.
TRANSMEM 2219 2239 Helical. {ECO:0000255}.
TOPO_DOM 2240 2270 Cytoplasmic. {ECO:0000255}.
TRANSMEM 2271 2291 Helical. {ECO:0000255}.
TOPO_DOM 2292 2312 Extracellular. {ECO:0000255}.
TRANSMEM 2313 2333 Helical. {ECO:0000255}.
TOPO_DOM 2334 2377 Cytoplasmic. {ECO:0000255}.
TRANSMEM 2378 2398 Helical. {ECO:0000255}.
TOPO_DOM 2399 2459 Extracellular. {ECO:0000255}.
DOMAIN 35 153 C-type lectin. {ECO:0000255|PROSITE-
ProRule:PRU00040}.
DOMAIN 161 252 SUEL-type lectin. {ECO:0000255|PROSITE-
ProRule:PRU00260}.
DOMAIN 422 1123 REJ. {ECO:0000255|PROSITE-
ProRule:PRU00511}.
DOMAIN 1279 1328 GPS. {ECO:0000255|PROSITE-
ProRule:PRU00098}.
DOMAIN 1390 1507 PLAT. {ECO:0000255|PROSITE-
ProRule:PRU00152}.
REGION 2340 2362 Channel pore-region.
REGION 2379 2459 Interaction with GNAS and GNAI1.
{ECO:0000269|PubMed:15203210}.
CARBOHYD 96 96 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 110 110 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 268 268 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 307 307 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 441 441 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 536 536 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1176 1176 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1186 1186 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
DISULFID 56 152 {ECO:0000250}.
DISULFID 128 144 {ECO:0000250}.
VAR_SEQ 1 685 Missing (in isoform 2, isoform 4 and
isoform 6). {ECO:0000303|PubMed:14702039,
ECO:0000303|PubMed:15203210,
ECO:0000303|PubMed:15489334}.
/FTId=VSP_031942.
VAR_SEQ 754 812 Missing (in isoform 6).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_031944.
VAR_SEQ 928 984 REHVLGSLSAVTTGLEDVQRVQELAEVLREVTCRSKELTPS
AQWEASLALQHASEAL -> PVGSWGAPFIPFLWGPRVCVR
PFGLWIKVHGSGEKPVVSPKRLTPPPSLVFWVSDIK (in
isoform 6).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_031945.
VAR_SEQ 971 991 WEASLALQHASEALLTVSAKA -> GSCMGDSWEGAPPAAH
VSHAR (in isoform 3 and isoform 4).
{ECO:0000303|PubMed:14702039,
ECO:0000303|PubMed:15489334}.
/FTId=VSP_031946.
VAR_SEQ 985 2459 Missing (in isoform 6).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_031947.
VAR_SEQ 992 2459 Missing (in isoform 3 and isoform 4).
{ECO:0000303|PubMed:14702039,
ECO:0000303|PubMed:15489334}.
/FTId=VSP_031948.
VARIANT 20 20 V -> A (in dbSNP:rs9924530).
/FTId=VAR_039427.
VARIANT 73 73 W -> R (in dbSNP:rs9924371).
{ECO:0000269|PubMed:12782129}.
/FTId=VAR_039428.
VARIANT 77 77 K -> N (in dbSNP:rs9934272).
{ECO:0000269|PubMed:12782129}.
/FTId=VAR_039429.
VARIANT 120 120 Q -> L (in dbSNP:rs7191351).
/FTId=VAR_039430.
VARIANT 129 129 G -> D (in dbSNP:rs7185774).
/FTId=VAR_039431.
VARIANT 156 156 V -> I (in dbSNP:rs35528333).
/FTId=VAR_039432.
VARIANT 162 162 C -> S (in dbSNP:rs35970134).
/FTId=VAR_039433.
VARIANT 169 169 V -> M (in dbSNP:rs36099350).
/FTId=VAR_039434.
VARIANT 173 173 L -> S (in dbSNP:rs8060294).
/FTId=VAR_039435.
VARIANT 183 183 V -> I (in dbSNP:rs12933806).
{ECO:0000269|PubMed:12782129}.
/FTId=VAR_039436.
VARIANT 205 205 G -> R (in dbSNP:rs34719852).
/FTId=VAR_039437.
VARIANT 221 221 E -> G (in dbSNP:rs6564838).
/FTId=VAR_039438.
VARIANT 252 252 R -> W (in dbSNP:rs6420424).
/FTId=VAR_039439.
VARIANT 301 301 P -> A (in dbSNP:rs11150370).
{ECO:0000269|PubMed:12782129}.
/FTId=VAR_039440.
VARIANT 407 407 N -> S (in dbSNP:rs9937169).
/FTId=VAR_039441.
VARIANT 416 416 K -> Q (in dbSNP:rs7194871).
/FTId=VAR_039442.
VARIANT 462 462 L -> V (in dbSNP:rs9934856).
/FTId=VAR_039443.
VARIANT 512 512 P -> L (in dbSNP:rs7205673).
/FTId=VAR_039444.
VARIANT 636 636 R -> H (in dbSNP:rs13339342).
/FTId=VAR_039445.
VARIANT 711 711 L -> P (in dbSNP:rs4889261).
{ECO:0000269|PubMed:11572484,
ECO:0000269|PubMed:12782129,
ECO:0000269|PubMed:14702039,
ECO:0000269|PubMed:15489334}.
/FTId=VAR_039446.
VARIANT 785 785 G -> C (in dbSNP:rs9935113).
/FTId=VAR_039447.
VARIANT 849 849 R -> H (in dbSNP:rs1869349).
/FTId=VAR_039448.
VARIANT 863 863 A -> V (in dbSNP:rs12596941).
{ECO:0000269|PubMed:11572484,
ECO:0000269|PubMed:12782129}.
/FTId=VAR_039449.
VARIANT 919 919 L -> M (in dbSNP:rs745211).
/FTId=VAR_039450.
VARIANT 998 998 R -> C (in dbSNP:rs34504526).
/FTId=VAR_061525.
VARIANT 999 999 Q -> H (in dbSNP:rs35292101).
/FTId=VAR_061526.
VARIANT 1036 1036 L -> P (in dbSNP:rs12597040).
/FTId=VAR_039451.
VARIANT 1042 1042 M -> V (in dbSNP:rs12931227).
/FTId=VAR_039452.
VARIANT 1048 1048 T -> A (in dbSNP:rs12931217).
/FTId=VAR_056705.
VARIANT 1081 1081 G -> V (in dbSNP:rs16954794).
/FTId=VAR_056706.
VARIANT 1251 1251 G -> W (in dbSNP:rs734824).
/FTId=VAR_056707.
VARIANT 1326 1326 S -> P (in dbSNP:rs1453324).
{ECO:0000269|PubMed:11572484,
ECO:0000269|PubMed:15203210}.
/FTId=VAR_056708.
VARIANT 1330 1330 N -> D (in dbSNP:rs1453325).
{ECO:0000269|PubMed:11572484,
ECO:0000269|PubMed:15203210}.
/FTId=VAR_061527.
VARIANT 1331 1331 I -> V (in dbSNP:rs9938333).
{ECO:0000269|PubMed:11572484}.
/FTId=VAR_061528.
VARIANT 1335 1335 A -> D (in dbSNP:rs1453326).
/FTId=VAR_056709.
VARIANT 1406 1406 T -> M (in dbSNP:rs8050904).
/FTId=VAR_056710.
VARIANT 1527 1527 A -> V (in dbSNP:rs16954775).
/FTId=VAR_056711.
VARIANT 1616 1616 Q -> R (in dbSNP:rs9921827).
/FTId=VAR_056712.
VARIANT 1645 1645 M -> V (in dbSNP:rs9921748).
/FTId=VAR_056713.
VARIANT 1665 1665 S -> Y (in dbSNP:rs7192948).
/FTId=VAR_056714.
VARIANT 1701 1701 Q -> H (in dbSNP:rs7194136).
/FTId=VAR_056715.
VARIANT 1739 1739 A -> V (in dbSNP:rs35941327).
/FTId=VAR_061529.
VARIANT 1848 1848 G -> R (in dbSNP:rs4889244).
/FTId=VAR_056716.
VARIANT 1867 1867 M -> V (in dbSNP:rs12918619).
{ECO:0000269|PubMed:11572484}.
/FTId=VAR_056717.
VARIANT 2036 2036 Q -> R (in dbSNP:rs16954722).
{ECO:0000269|PubMed:15203210}.
/FTId=VAR_056718.
VARIANT 2046 2046 P -> L (in dbSNP:rs7206183).
{ECO:0000269|PubMed:15203210}.
/FTId=VAR_056719.
VARIANT 2055 2055 A -> T (in dbSNP:rs16954717).
{ECO:0000269|PubMed:15203210}.
/FTId=VAR_056720.
VARIANT 2119 2119 L -> I (in dbSNP:rs8050204).
/FTId=VAR_059551.
VARIANT 2139 2139 S -> F (in dbSNP:rs4889241).
{ECO:0000269|PubMed:12782129,
ECO:0000269|PubMed:14702039,
ECO:0000269|PubMed:15203210}.
/FTId=VAR_059552.
VARIANT 2209 2209 S -> R (in dbSNP:rs4889238).
{ECO:0000269|PubMed:14702039,
ECO:0000269|PubMed:15203210}.
/FTId=VAR_061530.
VARIANT 2315 2315 M -> I (in dbSNP:rs8054182).
{ECO:0000269|PubMed:12782129,
ECO:0000269|PubMed:14702039}.
/FTId=VAR_059553.
CONFLICT 783 783 E -> G (in Ref. 4; BAC05222).
{ECO:0000305}.
CONFLICT 1421 1421 R -> S (in Ref. 1; AAO32796).
{ECO:0000305}.
CONFLICT 1774 1774 S -> P (in Ref. 5; BAB67772).
{ECO:0000305}.
CONFLICT 1776 1776 P -> H (in Ref. 5; BAB67772).
{ECO:0000305}.
CONFLICT 2049 2049 Y -> S (in Ref. 3; AAQ73173).
{ECO:0000305}.
CONFLICT 2078 2078 E -> A (in Ref. 3; AAQ73173).
{ECO:0000305}.
CONFLICT 2202 2202 V -> G (in Ref. 3; AAQ73173).
{ECO:0000305}.
SEQUENCE 2459 AA; 272575 MW; A650C27B51715962 CRC64;
MSAVGLVLLV LALRLRATTV KPEEGSFCSN SQVAFRDACY EFVPLGRTFR DAQSWCEGQG
GHLVFIQDEG TQWFLQKHIS QDREWWIGLT WNLARNGTTE GPGTWLDTSN VTYSNWHGGQ
AAAAPDTCGH IGRGPSSEWV TSDCAQTFAF MCEFRVGQSL ACEGLNATVH CGLGQVIQVQ
DAVYGRQNPH FCTQDAGRPS DLEQGCSWAN VKEEVAGQCQ ELQSCQVAAD ETYFGNLCPT
QGSYLWVQYQ CREALQLMVS SESFIFDNVT ISLTWLLSPY IGNLSCIIST GDSHTFDPYN
PPSVSSNVTH QFTSPGEFTV FAECTTSEWH VTAQRQVTVR DKMETLSVTA CSGLSQSGAG
PLCQAVFGDP LWIQVELDGG TGVTYTVLLG DITLAESTTQ KGSLPYNLIL DRETQKLMGP
GRHRLEIQAT GNTTTSTISR NITVHLVELL SGLQASWASD HLELGQDLLI TISLAQGTPE
ELTFEVAGLN ATFSHEQVSF GEPFGICRLA VPVEGTFLVT MLVRNAFSNL SLEIGNITIT
APSGLQEPSG MNAEGKSKDK GDMEVYIQPG PYVDPFTTVT LGWPDNDKEL RFQWSCGSCW
ALWSSCVERQ LLRTDQRELV VPASCLPPPD SAVTLRLAVL RGQELENRAE QCLYVSAPWE
LRPRVSCERN CRPVNASKDI LLRVTMGEDS PVAMFSWYLD NTPTEQAEPL LDACRLRGFW
PRSLTLLQSN TSTLLLNSSF LQSRGEVIRI RATALTRHAY GEDTYVISTV PPREVPACTI
APEEGTVLTS FAIFCNASTA LGPLEFCFCL ESGSCLHCGP EPALPSVYLP LGEENNDFVL
TVVISATNRA GDTQQTQAMA KVALGDTCVE DVAFQAAVSE KIPTALQGEG GPEQLLQLAK
AVSSMLNQEH ESQGSGQSLS IDVRQKVREH VLGSLSAVTT GLEDVQRVQE LAEVLREVTC
RSKELTPSAQ WEASLALQHA SEALLTVSAK ARPEDQRRQA ATRDLFQAVG SVLEASLSNR
PEEPAEASSS QIATVLRLLR VMEHVQTTLL LGKLPGGLPA MLATPSISVY TNRIQPWSWQ
GSSLRPDAAD SATFMLPAAS SLSSLEGGQE PVDIKIMSFP KSPFPARSHF DVSGTVGGLR
VTSPSGQLIP VKNLSENIEI LLPRHSQRHS QPTVLNLTSP EALWVNVTSG EATLGIQLHW
RPDIALTLSL GYGYHPNKSS YDAQTHLVPM VAPDELPTWI LSPQDLRFGE GVYYLTVVPE
SDLEPAPGRD LTVGITTFLS HCVFWDEVQE TWDDSGCQVG PRTSPYQTHC LCNHLTFFGS
TFLVMSNAIN IHQTAELFAT FEDNPVVVTT VGCLCVVYVL VVIWARRKDA QDQAKVKVTV
LEDNDPFAQY HYLVTVYTGH RRGAATSSKV TVTLYGLDGE REPHHLADPD TPVFERGAVD
AFLLSTLFPL GELRSLRLWH DNSGDRPSWY VSRVLVYDLV MDRKWYFLCN SWLSINVGDC
VLDKVFPVAT EQDRKQFSHL FFMKTSAGFQ DGHIWYSIFS RCARSSFTRV QRVSCCFSLL
LCTMLTSIMF WGVPKDPAEQ KMDLGKIEFT WQEVMIGLES SILMFPINLL IVQIFQNTRP
RVAKEQNTGK WDRGSPNLTP SPQPMEDGLL TPEAVTKDVS RIVSSLFKAL KVPSPALGWD
SVNLMDINSL LALVEDVIYP QNTSGQVFWE EAKKREDPVT LTLGSSEMKE KSQCPKPKAA
RSGPWKDSAY RQCLYLQLEH VEQELRLVGP RGFSQPHSHA QALRQLQTLK GGLGVQPGTW
APAHASALQV SKPPQGLPWW CILVGWLLVA ATSGVAAFFT MLYGLHYGRA SSLRWLISMA
VSFVESMFVT QPLKVLGFAA FFALVLKRVD DEEDTVAPLP GHLLGPDPYA LFRARRNSSR
DVYQPPLTAA IEKMKTTHLK EQKAFALIRE ILAYLGFLWM LLLVAYGQRD PSAYHLNRHL
QHSFTRGFSG VLGFREFFKW ANTTLVSNLY GHPPGFITDG NSKLVGSAQI RQVRVQESSC
PLAQQPQAYL NGCRAPYSLD AEDMADYGEG WNATTLSEWQ YQSQDQRQGY PIWGKLTVYR
GGGYVVPLGT DRQKHVKILR YLFDNTWLDA LTRAVFVEST VYNANVNLFC IVTLTLETSA
LGTFFTHAAL QSLRLYPFTD GWHPFVVAAE LIYFLFLLYY MVVQGKRMSK ETWGYFCSKW
NLLELAIILA SWSALAVFVK RAVLAERDLQ RCRNHREEGI SFSETAAADA ALGYIIAFLV
LLSTVKLWHL LRLNPKMNMI TAALRRAWGD ISGFMIVILT MLLAYSIASN LIFGWKLRSY
KTLFDAAETM VSLQLGIFNY EEVLDYSPVL GSFLIGSCIV FMTFVVLNLF ISVILVAFSE
EQKYYQLSEE GEIVDLLLMK ILSFLGIKSK REEPGSSREQ PGSLSQTRHS RPAQALPKD


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