| Type | Description |
|---|---|
| Definition | McKusick-Kaufman syndrome |
| Date | Results | Publications |
|---|---|---|
| 2019-08-31 12:48:00 | Novel sequence variants in the MKKS gene cause Bardet-Biedl syndrome in two consanguineous families with intra- and inter-familial variable phenotypes. | 29232001 |
| 2018-04-14 10:48:00 | Two novel mutations and three previously reported variants, identified in the present study, further extend the body of evidence implicating BBS6, BBS7, BBS8, and BBS10 in causing Bardet-Biedl Syndrome. | 28761321 |
| 2018-04-07 11:45:00 | found compound heterozygous variants (c.1192C>T, p.Q398* and c.1175C>T, p.T392M) in MKKS in both the siblings, and these were likely to be pathogenic variants | 28624958 |
| 2016-10-22 11:27:00 | We identified a novel H395R substitution in MKKS/BBS6 that results in a unique phenotype of only retinitis pigmentosa and polydactyly. | 26900326 |
| 2015-09-26 16:15:00 | we report here, for the first time, in Indian population, a novel, different profile of mutations in BBS genes (BBS3, BBS9, BBS10 and BBS2) compared to worldwide (BBS1 and 10) reports. | 24400638 |
| Type | IDs |
|---|---|
| Synonymous | BBS6, HMCS, KMS, MKS |
| Gene |
UniProtKB-ID:
MKKS_HUMAN,
B7Z3W9_HUMAN
UniprotKB:
Q9NPJ1,
B7Z3W9
UniParc:
UPI0001914BA5,
UPI000012F199
EMBL:
AK296439,
AL157427,
AL034430,
AK291925,
AF221992,
CH471133,
AF221993
Ensembl:
ENSG00000125863
KO:
hsa:8195
|
| Nucleutide sequences |
EMBL-CDS:
EAX10344.1,
EAX10345.1,
AAF73873.1,
BAF84614.1,
CAB75652.1,
AAF73872.1,
BAH12355.1
Ensembl_TRS:
ENST00000399054,
ENST00000651692,
ENST00000347364
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000498849,
ENSP00000382008,
ENSP00000246062
RefSeq:
NP_061336.1,
NP_740754.1
|
| Others |
UniRef100:
UniRef100_Q9NPJ1
UniRef90:
UniRef90_Q9NPJ1
UniRef50:
UniRef50_Q9NPJ1
UniGene:
Hs.472119,
Hs.741430
CCDS:
CCDS13111.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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