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Bardet-Biedl syndrome 12 protein

 BBS12_HUMAN             Reviewed;         710 AA.
Q6ZW61; D3DNX5; Q7Z342; Q7Z482; Q8NAB8;
11-SEP-2007, integrated into UniProtKB/Swiss-Prot.
18-MAY-2010, sequence version 2.
10-OCT-2018, entry version 127.
RecName: Full=Bardet-Biedl syndrome 12 protein;
Name=BBS12; Synonyms=C4orf24;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS GLN-386 AND
ASN-467.
TISSUE=Spleen, and Tongue;
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).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT GLN-386.
TISSUE=Fetal kidney;
PubMed=17974005; DOI=10.1186/1471-2164-8-399;
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
"The full-ORF clone resource of the German cDNA consortium.";
BMC Genomics 8:399-399(2007).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15815621; DOI=10.1038/nature03466;
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H.,
Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M.,
Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E.,
Kremitzki C., Oddy L., Du H., Sun H., Bradshaw-Cordum H., Ali J.,
Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C.,
Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J.,
Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A.,
Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K.,
Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M.,
Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N.,
Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M.,
Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E.,
Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P.,
Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A.,
Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A.,
Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T.,
Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D.,
Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X.,
McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
Miller W., Eichler E.E., Bork P., Suyama M., Torrents D.,
Waterston R.H., Wilson R.K.;
"Generation and annotation of the DNA sequences of human chromosomes 2
and 4.";
Nature 434:724-731(2005).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT GLN-386.
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS ARG-195; GLN-386;
ASN-467 AND VAL-615.
TISSUE=Brain;
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).
[6]
FUNCTION, AND SUBCELLULAR LOCATION.
PubMed=19190184; DOI=10.1073/pnas.0812518106;
Marion V., Stoetzel C., Schlicht D., Messaddeq N., Koch M., Flori E.,
Danse J.M., Mandel J.-L., Dollfus H.;
"Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a
fundamental characteristic of adipogenic differentiation.";
Proc. Natl. Acad. Sci. U.S.A. 106:1820-1825(2009).
[7]
FUNCTION, IDENTIFICATION IN THE CHAPERONIN-CONTAINING T-COMPLEX, AND
CHARACTERIZATION OF VARIANTS BBS12 VAL-113 DEL; LEU-159; PRO-289;
THR-346; MET-501 AND VAL-540.
PubMed=20080638; DOI=10.1073/pnas.0910268107;
Seo S., Baye L.M., Schulz N.P., Beck J.S., Zhang Q., Slusarski D.C.,
Sheffield V.C.;
"BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family
chaperonins and mediate BBSome assembly.";
Proc. Natl. Acad. Sci. U.S.A. 107:1488-1493(2010).
[8]
INTERACTION WITH MKKS.
PubMed=26900326;
Hulleman J.D., Nguyen A., Ramprasad V.L., Murugan S., Gupta R.,
Mahindrakar A., Angara R., Sankurathri C., Mootha V.V.;
"A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and
polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman
syndrome.";
Mol. Vis. 22:73-81(2016).
[9]
VARIANTS BBS12 VAL-113 DEL; LEU-159; PRO-289; THR-346; MET-501 AND
VAL-540, AND VARIANTS THR-39 AND VAL-170.
PubMed=17160889; DOI=10.1086/510256;
Stoetzel C., Muller J., Laurier V., Davis E.E., Zaghloul N.A.,
Vicaire S., Jacquelin C., Plewniak F., Leitch C.C., Sarda P.,
Hamel C., de Ravel T.J., Lewis R.A., Friederich E., Thibault C.,
Danse J.-M., Verloes A., Bonneau D., Katsanis N., Poch O.,
Mandel J.-L., Dollfus H.;
"Identification of a novel BBS gene (BBS12) highlights the major role
of a vertebrate-specific branch of chaperonin-related proteins in
Bardet-Biedl syndrome.";
Am. J. Hum. Genet. 80:1-11(2007).
[10]
VARIANT BBS12 511-GLN--GLN-513 DEL, AND VARIANTS THR-39; ARG-408 AND
CYS-524.
PubMed=20120035; DOI=10.1002/humu.21204;
Hjortshoj T.D., Gronskov K., Philp A.R., Nishimura D.Y., Riise R.,
Sheffield V.C., Rosenberg T., Brondum-Nielsen K.;
"Bardet-Biedl syndrome in Denmark -- report of 13 novel sequence
variations in six genes.";
Hum. Mutat. 31:429-436(2010).
[11]
VARIANTS THR-39; SER-119 AND HIS-263, AND VARIANTS BBS12 ARG-88;
GLU-293; GLN-355; MET-400; MET-501; HIS-525; ASP-539 AND CYS-674.
PubMed=21344540; DOI=10.1002/humu.21480;
Deveault C., Billingsley G., Duncan J.L., Bin J., Theal R.,
Vincent A., Fieggen K.J., Gerth C., Noordeh N., Traboulsi E.I.,
Fishman G.A., Chitayat D., Knueppel T., Millan J.M., Munier F.L.,
Kennedy D., Jacobson S.G., Innes A.M., Mitchell G.A., Boycott K.,
Heon E.;
"BBS genotype-phenotype assessment of a multiethnic patient cohort
calls for a revision of the disease definition.";
Hum. Mutat. 32:610-619(2011).
-!- FUNCTION: Component of the chaperonin-containing T-complex (TRiC),
a molecular chaperone complex that assists the folding of proteins
upon ATP hydrolysis. As part of the TRiC complex may play a role
in the assembly of BBSome, a complex involved in ciliogenesis
regulating transports vesicles to the cilia (PubMed:20080638).
Involved in adipogenic differentiation (PubMed:19190184).
{ECO:0000269|PubMed:19190184, ECO:0000269|PubMed:20080638}.
-!- SUBUNIT: Component of the chaperonin-containing T-complex (TRiC),
a heterooligomeric complex of about 850 to 900 kDa that forms two
stacked rings, 12 to 16 nm in diameter (PubMed:20080638).
Interacts with MKKS (PubMed:26900326).
{ECO:0000269|PubMed:20080638, ECO:0000269|PubMed:26900326}.
-!- INTERACTION:
Q8TAM1:BBS10; NbExp=4; IntAct=EBI-6128352, EBI-6128013;
Q8IWZ6:BBS7; NbExp=7; IntAct=EBI-6128352, EBI-1806001;
Q3SYG4:BBS9; NbExp=2; IntAct=EBI-6128352, EBI-2826852;
Q9NPJ1:MKKS; NbExp=11; IntAct=EBI-6128352, EBI-721319;
-!- SUBCELLULAR LOCATION: Cell projection, cilium
{ECO:0000269|PubMed:19190184}. Note=Located within the basal body
of the primary cilium of differentiating preadipocytes.
{ECO:0000269|PubMed:19190184}.
-!- DISEASE: Bardet-Biedl syndrome 12 (BBS12) [MIM:615989]: A syndrome
characterized by usually severe pigmentary retinopathy, early-
onset obesity, polydactyly, hypogenitalism, renal malformation and
mental retardation. Secondary features include diabetes mellitus,
hypertension and congenital heart disease. Bardet-Biedl syndrome
inheritance is autosomal recessive, but three mutated alleles (two
at one locus, and a third at a second locus) may be required for
clinical manifestation of some forms of the disease.
{ECO:0000269|PubMed:17160889, ECO:0000269|PubMed:20080638,
ECO:0000269|PubMed:20120035, ECO:0000269|PubMed:21344540}.
Note=The disease is caused by mutations affecting the gene
represented in this entry.
-!- MISCELLANEOUS: Adipocytes derived from BBS-patients' dermal
fibroblasts in culture exhibit higher propensity for fat
accumulation when compared to controls. This strongly suggests
that a peripheral primary dysfunction of adipogenesis participates
in the pathogenesis of obesity in BBS.
-!- SIMILARITY: Belongs to the TCP-1 chaperonin family. BBS12
subfamily. {ECO:0000305}.
-!- SEQUENCE CAUTION:
Sequence=BAC04006.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
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EMBL; AK092949; BAC04006.1; ALT_INIT; mRNA.
EMBL; AK123553; BAC85644.1; -; mRNA.
EMBL; BX538148; CAD98035.1; -; mRNA.
EMBL; AC053545; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471056; EAX05223.1; -; Genomic_DNA.
EMBL; CH471056; EAX05224.1; -; Genomic_DNA.
EMBL; BC055426; AAH55426.1; -; mRNA.
CCDS; CCDS3728.1; -.
RefSeq; NP_001171478.1; NM_001178007.1.
RefSeq; NP_689831.2; NM_152618.2.
RefSeq; XP_011529982.1; XM_011531680.2.
RefSeq; XP_016863320.1; XM_017007831.1.
UniGene; Hs.400698; -.
ProteinModelPortal; Q6ZW61; -.
BioGrid; 127928; 6.
CORUM; Q6ZW61; -.
DIP; DIP-60348N; -.
IntAct; Q6ZW61; 15.
STRING; 9606.ENSP00000319062; -.
iPTMnet; Q6ZW61; -.
PhosphoSitePlus; Q6ZW61; -.
BioMuta; BBS12; -.
DMDM; 296434408; -.
PaxDb; Q6ZW61; -.
PeptideAtlas; Q6ZW61; -.
PRIDE; Q6ZW61; -.
ProteomicsDB; 68466; -.
Ensembl; ENST00000314218; ENSP00000319062; ENSG00000181004.
Ensembl; ENST00000542236; ENSP00000438273; ENSG00000181004.
GeneID; 166379; -.
KEGG; hsa:166379; -.
UCSC; uc003ieu.3; human.
CTD; 166379; -.
DisGeNET; 166379; -.
EuPathDB; HostDB:ENSG00000181004.9; -.
GeneCards; BBS12; -.
GeneReviews; BBS12; -.
H-InvDB; HIX0018635; -.
HGNC; HGNC:26648; BBS12.
HPA; HPA061856; -.
MalaCards; BBS12; -.
MIM; 610683; gene.
MIM; 615989; phenotype.
neXtProt; NX_Q6ZW61; -.
OpenTargets; ENSG00000181004; -.
Orphanet; 110; Bardet-Biedl syndrome.
PharmGKB; PA162377350; -.
eggNOG; ENOG410IVI6; Eukaryota.
eggNOG; ENOG410Z0I5; LUCA.
GeneTree; ENSGT00390000008984; -.
HOGENOM; HOG000294113; -.
HOVERGEN; HBG107495; -.
InParanoid; Q6ZW61; -.
KO; K19402; -.
OMA; TCAYRLY; -.
OrthoDB; EOG091G036E; -.
PhylomeDB; Q6ZW61; -.
TreeFam; TF330844; -.
Reactome; R-HSA-5620922; BBSome-mediated cargo-targeting to cilium.
GeneWiki; BBS12; -.
GenomeRNAi; 166379; -.
PRO; PR:Q6ZW61; -.
Proteomes; UP000005640; Chromosome 4.
Bgee; ENSG00000181004; Expressed in 151 organ(s), highest expression level in sperm.
CleanEx; HS_BBS12; -.
ExpressionAtlas; Q6ZW61; baseline and differential.
Genevisible; Q6ZW61; HS.
GO; GO:0005832; C:chaperonin-containing T-complex; IBA:GO_Central.
GO; GO:0005929; C:cilium; IEA:UniProtKB-SubCell.
GO; GO:0005524; F:ATP binding; IEA:InterPro.
GO; GO:0044183; F:protein binding involved in protein folding; IBA:GO_Central.
GO; GO:0051082; F:unfolded protein binding; IBA:GO_Central.
GO; GO:0006458; P:'de novo' protein folding; IBA:GO_Central.
GO; GO:0051131; P:chaperone-mediated protein complex assembly; IMP:MGI.
GO; GO:0061077; P:chaperone-mediated protein folding; IBA:GO_Central.
GO; GO:0042755; P:eating behavior; IEA:Ensembl.
GO; GO:0042073; P:intraciliary transport; IEA:Ensembl.
GO; GO:0045599; P:negative regulation of fat cell differentiation; IMP:MGI.
GO; GO:0045494; P:photoreceptor cell maintenance; IEA:Ensembl.
Gene3D; 1.10.560.10; -; 2.
Gene3D; 3.30.260.10; -; 2.
Gene3D; 3.50.7.10; -; 1.
InterPro; IPR002423; Cpn60/TCP-1.
InterPro; IPR027409; GroEL-like_apical_dom_sf.
InterPro; IPR027413; GROEL-like_equatorial_sf.
InterPro; IPR027410; TCP-1-like_intermed_sf.
Pfam; PF00118; Cpn60_TCP1; 2.
SUPFAM; SSF48592; SSF48592; 2.
SUPFAM; SSF52029; SSF52029; 1.
1: Evidence at protein level;
Bardet-Biedl syndrome; Cell projection; Ciliopathy; Cilium;
Complete proteome; Disease mutation; Mental retardation; Obesity;
Polymorphism; Reference proteome.
CHAIN 1 710 Bardet-Biedl syndrome 12 protein.
/FTId=PRO_0000301981.
VARIANT 39 39 I -> T (in dbSNP:rs138036823).
{ECO:0000269|PubMed:17160889,
ECO:0000269|PubMed:20120035,
ECO:0000269|PubMed:21344540}.
/FTId=VAR_034919.
VARIANT 88 88 L -> R (in BBS12; dbSNP:rs746271266).
{ECO:0000269|PubMed:21344540}.
/FTId=VAR_066266.
VARIANT 113 113 Missing (in BBS12; significantly reduces
the interaction with MKKS; shows
significantly decreased interaction with
BBS7; the interaction with BBS10 is not
affected by this mutation).
{ECO:0000269|PubMed:17160889,
ECO:0000269|PubMed:20080638}.
/FTId=VAR_034920.
VARIANT 119 119 G -> S (associated with H-263 in a
patient with Bardet-Biedl syndrome
compound heterozygote for mutations in
BBS10; dbSNP:rs77731085).
{ECO:0000269|PubMed:21344540}.
/FTId=VAR_066267.
VARIANT 126 126 E -> D (in dbSNP:rs309369).
/FTId=VAR_034921.
VARIANT 159 159 P -> L (in BBS12; unknown pathological
significance; significantly reduces the
interaction with MKKS; the interaction
with BBS10 is not affected by this
mutation; dbSNP:rs1450190654).
{ECO:0000269|PubMed:17160889,
ECO:0000269|PubMed:20080638}.
/FTId=VAR_034922.
VARIANT 170 170 I -> V. {ECO:0000269|PubMed:17160889}.
/FTId=VAR_034923.
VARIANT 195 195 K -> R (in dbSNP:rs17854892).
{ECO:0000269|PubMed:15489334}.
/FTId=VAR_034924.
VARIANT 238 238 N -> K (in dbSNP:rs17006082).
/FTId=VAR_034925.
VARIANT 263 263 Y -> H (associated with S-119 in a
patient with Bardet-Biedl syndrome
compound heterozygote for mutations in
BBS10; dbSNP:rs150040166).
{ECO:0000269|PubMed:21344540}.
/FTId=VAR_066268.
VARIANT 289 289 A -> P (in BBS12; significantly reduces
the interaction with MKKS; shows
significantly decreased interaction with
BBS7; the interaction with BBS10 is not
affected by this mutation;
dbSNP:rs121918328).
{ECO:0000269|PubMed:17160889,
ECO:0000269|PubMed:20080638}.
/FTId=VAR_034926.
VARIANT 293 293 Q -> E (in BBS12).
{ECO:0000269|PubMed:21344540}.
/FTId=VAR_066269.
VARIANT 346 346 I -> T (in BBS12; significantly reduces
the interaction with MKKS; shows
significantly decreased interaction with
BBS7; the interaction with BBS10 is not
affected by this mutation).
{ECO:0000269|PubMed:17160889,
ECO:0000269|PubMed:20080638}.
/FTId=VAR_062964.
VARIANT 355 355 R -> Q (in BBS12).
{ECO:0000269|PubMed:21344540}.
/FTId=VAR_066270.
VARIANT 386 386 R -> Q (in dbSNP:rs309370).
{ECO:0000269|PubMed:14702039,
ECO:0000269|PubMed:15489334,
ECO:0000269|PubMed:17974005,
ECO:0000269|Ref.4}.
/FTId=VAR_034927.
VARIANT 400 400 V -> M (in BBS12; dbSNP:rs771136797).
{ECO:0000269|PubMed:21344540}.
/FTId=VAR_066271.
VARIANT 408 408 K -> R (in a patient with Bardet-Biedl
syndrome compound heterozygote for BBS2
mutations; unknown pathological
significance).
{ECO:0000269|PubMed:20120035}.
/FTId=VAR_066272.
VARIANT 429 429 S -> T (in dbSNP:rs7665271).
/FTId=VAR_034928.
VARIANT 461 461 N -> H (in dbSNP:rs10027479).
/FTId=VAR_034929.
VARIANT 467 467 D -> N (in dbSNP:rs13135778).
{ECO:0000269|PubMed:14702039,
ECO:0000269|PubMed:15489334}.
/FTId=VAR_034930.
VARIANT 484 484 R -> K (in dbSNP:rs35690634).
/FTId=VAR_034931.
VARIANT 501 501 T -> M (in BBS12; significantly reduces
the interaction with MKKS; shows
significantly decreased interaction with
BBS7; the interaction with BBS10 is not
affected by this mutation;
dbSNP:rs138011813).
{ECO:0000269|PubMed:17160889,
ECO:0000269|PubMed:20080638,
ECO:0000269|PubMed:21344540}.
/FTId=VAR_062965.
VARIANT 511 513 Missing (in BBS12).
{ECO:0000269|PubMed:20120035}.
/FTId=VAR_066273.
VARIANT 524 524 Y -> C (in a patient with Bardet-Biedl
syndrome homozygous for a mutation in
BBS2; unknown pathological significance;
dbSNP:rs770746493).
{ECO:0000269|PubMed:20120035}.
/FTId=VAR_066274.
VARIANT 525 525 R -> H (in BBS12; unknown pathological
significance; dbSNP:rs776730549).
{ECO:0000269|PubMed:21344540}.
/FTId=VAR_066275.
VARIANT 539 539 G -> D (in BBS12).
{ECO:0000269|PubMed:21344540}.
/FTId=VAR_066276.
VARIANT 540 540 G -> V (in BBS12; significantly reduces
the interaction with MKKS; shows
significantly decreased interaction with
BBS7; the interaction with BBS10 is not
affected by this mutation;
dbSNP:rs1010403072).
{ECO:0000269|PubMed:17160889,
ECO:0000269|PubMed:20080638}.
/FTId=VAR_034932.
VARIANT 615 615 A -> V (in dbSNP:rs17857451).
{ECO:0000269|PubMed:15489334}.
/FTId=VAR_034933.
VARIANT 674 674 R -> C (in BBS12; dbSNP:rs759088490).
{ECO:0000269|PubMed:21344540}.
/FTId=VAR_066277.
CONFLICT 462 462 E -> G (in Ref. 2; CAD98035).
{ECO:0000305}.
CONFLICT 597 597 K -> R (in Ref. 1; BAC04006).
{ECO:0000305}.
SEQUENCE 710 AA; 79085 MW; F441A12526A23B40 CRC64;
MVMACRVVNK RRHMGLQQLS SFAETGRTFL GPLKSSKFII DEECHESVLI SSTVRLLESL
DLTSAVGQLL NEAVQAQNNT YRTGISTLLF LVGAWSSAVE ECLHLGVPIS IIVSVMSEGL
NFCSEEVVSL HVPVHNIFDC MDSTKTFSQL ETFSVSLCPF LQVPSDTDLI EELHGLKDVA
SQTLTISNLS GRPLKSYELF KPQTKVEADN NTSRTLKNSL LADTCCRQSI LIHSRHFNRT
DNTEGVSKPD GFQEHVTATH KTYRCNDLVE LAVGLSHGDH SSMKLVEEAV QLQYQNACVQ
QGNCTKPFMF DISRIFTCCL PGLPETSSCV CPGYITVVSV SNNPVIKELQ NQPVRIVLIE
GDLTENYRHL GFNKSANIKT VLDSMRLQED SSEELWANHV LQVLIQFKVN LVLVQGNVSE
RLIEKCINSK RLVIGSVNGS VMQAFAEAAG AVQVAYITQV NEDCVGDGVC VTFWRSSPLD
VVDRNNRIAI LLKTEGINLV TAVLTNPVTA QMQIKEDRFW TCAYRLYYAL KEEKVFLGGG
AVEFLCLSCL HILAEQSLKK ENHACSGWLH NTSSWLASSL AIYRPTVLKF LANGWQKYLS
TLLYNTANYS SEFEASTYIQ HHLQNATDSG SPSSYILNEY SKLNSRIFNS DISNKLEQIP
RVYDVVTPKI EAWRRALDLV LLVLQTDSEI ITGHGHTQIN SQELTGFLFL


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