| Type | Description |
|---|---|
| Definition | SH3 and cysteine rich domain 3 |
| Date | Results | Publications |
|---|---|---|
| 2020-06-27 10:57:00 | Bayesian statistics predicted CACNA1S variant p.Thr1009Lys and RYR1 variants p.Ser1728Phe and p.Leu4824Pro are likely pathogenic, and novel STAC3 variant p.Met187Thr has uncertain significance. Nearly a third of MHS subjects had only benign variants. Bayesian method provides new approach to predict MH pathogenicity of genetic variants | 31559918 |
| 2020-06-06 13:30:00 | Unexpected discoveries in the case reported here in a Kuwaiti family, via Next Generation Sequencing, identifying the STAC3 mutation as the underlying cause of a Native American Myopathy phenotype. | 31859625 |
| 2019-11-30 10:32:00 | recent identification of the adaptor protein STAC3 as fourth essential component of skeletal muscle EC coupling prompted vigorous research to reveal its role in this signaling process. | 30543836 |
| 2019-10-12 11:57:00 | Study reports patients with congenital myopathy carrying either a homozygous, heterozygous p.(Trp284Ser) STAC3 variant or a novel splice site change (c.997-1G > T). The patients have distinctive dysmorphic features in addition to a malignant hyperthermia-like in some. These variants showed a defective excitation-contraction which is not a result of CaV 1.1 sarcolemma mislocation or impaired interaction with CaV 1.1. | 30168660 |
| 2018-02-10 10:17:00 | STAC3 mutation is associated with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome. | 28777491 |
| Type | IDs |
|---|---|
| Synonymous | MYPBB, NAM |
| Gene |
UniProtKB-ID:
STAC3_HUMAN,
A0A024RB38_HUMAN
UniprotKB:
Q96MF2,
A0A024RB38
UniParc:
UPI0000EE266E,
UPI0000070E78,
UPI000006E4D3
EMBL:
BC008069,
CH471054,
AC137834,
AK057013,
AK300688
Ensembl:
ENSG00000185482
KO:
hsa:246329
|
| Nucleutide sequences |
EMBL-CDS:
EAW97005.1,
AAH08069.1,
BAB71343.1,
BAG62371.1,
EAW97004.1,
EAW97007.1
Gene_ORFName:
hCG_41237
Ensembl_TRS:
ENST00000546246,
ENST00000332782,
ENST00000554578
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000441515,
ENSP00000452068,
ENSP00000329200
RefSeq:
NP_659501.1,
XP_011536428.1,
NP_001273185.1,
NP_001273186.1
|
| Others |
UniRef100:
UniRef100_Q96MF2
UniRef90:
UniRef90_Q96MF2
UniRef50:
UniRef50_Q96MF2
UniGene:
Hs.417595
CCDS:
CCDS8936.1,
CCDS66405.1,
CCDS66406.1
|
| {{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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