| Type | Description |
|---|---|
| Definition | myosin IA |
| Date | Results | Publications |
|---|---|---|
| 2017-07-29 10:07:00 | These data do not support a causal relationship of variants in MYO1A to sensorineural hearing loss. We suggest that the genotypic ascertainment method is useful to objectively evaluate gene-phenotype associations. | 27759032 |
| 2016-12-17 11:37:00 | This is the first time a haplotype on chromosome 12 containing sequence variants in the genes DCTN2, DNAH10, LRIG3, and MYO1A has been linked to an inherited neuropathy in humans. | 26517670 |
| 2015-02-14 14:07:00 | One missense variant, p.R544W, was found in the MYO1A gene, and in silico analysis suggested that this variant has deleterious effects on protein function. | 25080041 |
| 2014-12-20 11:12:00 | Most of the altogether 10 MYO1A mutations are annotated in dbSNP, and population frequencies (dbSNP, 1000 Genomes, Exome Sequencing Project) above 0.1% contradict pathogenicity under a dominant model | 24616153 |
| 2013-05-25 11:09:00 | findings suggest that MYO1A has tumor suppressor activity in the normal gastric epithelium but not in the normal endometrium and inactivation of MYO1A either genetically or epigenetically may confer gastric epithelial cells a growth ad | 23002058 |
| Type | IDs |
|---|---|
| Synonymous | BBMI, DFNA48, MIHC, MYHL |
| Gene |
UniProtKB-ID:
MYO1A_HUMAN,
B2R643_HUMAN
UniprotKB:
Q9UBC5,
B2R643
UniParc:
UPI000012FAC2,
UPI0001750561
EMBL:
AK312431,
AF009961,
AF105424,
AF127026,
BC059387
Ensembl:
ENSG00000166866
KO:
hsa:4640
|
| Nucleutide sequences |
EMBL-CDS:
AAD31189.1,
AAC27437.1,
AAC78645.1,
AAH59387.1,
BAG35340.1
Ensembl_TRS:
ENST00000300119,
ENST00000442789
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000300119,
ENSP00000393392
RefSeq:
NP_001242970.1,
XP_011536675.1,
NP_005370.1
|
| Others |
UniRef100:
UniRef100_Q9UBC5,
UniRef100_B2R643
UniRef90:
UniRef90_Q9UBC5
UniRef50:
UniRef50_Q9UBC5
UniGene:
Hs.5394
CCDS:
CCDS8929.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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