| Type | Description |
|---|---|
| Definition | myosin XVA |
| Date | Results | Publications |
|---|---|---|
| 2021-01-09 13:34:00 | Novel MYO15A variants are associated with hearing loss in the two Iranian pedigrees. | 33208113 |
| 2020-12-05 13:01:00 | [Analysis of MYO15A variation in children with DFNB3]. | 32987461 |
| 2020-07-04 10:17:00 | Novel compound heterozygosity at the MYO15A including an duplication variant c.3866dupC, p.His1290Alafs*25 and a 3-bp deletion (c.10251_10253del, p.Phe3420del), resulting in protein length changes and premature protein truncation, respectively, was found in Chinese family with non-syndromic hearing loss. | 31250571 |
| 2020-03-21 11:57:00 | The allele frequencies of mutations in deafness genes in the Taiwanese families are shown. The most prevalent pathogenic variants included GJB2 mutations (22.92%), SLC26A4 mutations (6.03%), OTOF mutations (4.62%), MYO15A mutations (2.98%), and the m.1555A>G mutation (1.95%). | 31581539 |
| 2020-03-07 12:02:00 | A novel MITF mutation along with a previously described MYO15A mutation segregate with an autosomal recessive non-syndromic Hearing loss (HL) case with a post-lingual onset. The findings highlight the importance of carrying whole exome sequencing for a comprehensive assessment of HL genetic heterogeneity | 31898538 |
| Type | IDs |
|---|---|
| Synonymous | DFNB3, MYO15 |
| Gene |
UniProtKB-ID:
MYO15_HUMAN
UniprotKB:
Q9UKN7
UniParc:
UPI0000E59E6E,
UPI00017A6E33
EMBL:
AF144094,
AC087164,
AK294036,
AF051976
Ensembl:
ENSG00000091536
KO:
hsa:51168
|
| Nucleutide sequences |
EMBL-CDS:
BAG57388.1,
AAF05903.1
Ensembl_TRS:
ENST00000647165,
ENST00000418233
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000408800,
ENSP00000495481
RefSeq:
XP_024306548.1,
XP_024306549.1,
NP_057323.3,
XP_024306550.1,
XP_011522220.1,
XP_016880204.1,
XP_016880203.1
|
| Others |
UniRef100:
UniRef100_Q9UKN7
UniRef90:
UniRef90_Q9UKN7
UniRef50:
UniRef50_Q9QZZ4
UniGene:
Hs.462390
CCDS:
CCDS42271.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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