Type | Description |
---|---|
Definition | sarcoglycan delta |
Date | Results | Publications |
---|---|---|
2018-04-07 11:50:00 | Study identified 2 non-synonymous missense mutations: c.C652T, p.R218W in ACVRL1, c.C717G, p.D239E in SGCD in Chinese population with total anomalous pulmonary venous return. | 28412737 |
2017-07-01 10:06:00 | Dilated cardiomyopathy mutations in delta-sarcoglycan can exert a dominant negative effect on dystrophin-glycoprotein complex function leading to myocardial mechanical instability that may underlie the pathogenesis of delta-sarcoglycan-associated DCM. | 26968544 |
2016-07-02 11:52:00 | haplotype -_G composed of c.-100~-110 and A848G confers higher susceptibility to dilated cardiomyopathy in the Mongoloid population. | 26720722 |
2015-08-01 11:24:00 | CC genotype of the delta-sarcoglycan gene polymorphism rs13170573 is associated with obstructive sleep apnea in the Chinese population | 25474115 |
2014-02-22 11:47:00 | Genetic variation at the delta-sarcoglycan locus elevates heritable sympathetic nerve activity in human twin pairs | 23786442 |
Type | IDs |
---|---|
Synonymous | 35DAG, CMD1L, DAGD, LGMDR6, SG-delta, SGCDP, SGD |
Gene |
UniProtKB-ID:
SGCD_HUMAN
UniprotKB:
Q92629
UniParc:
UPI000014A6BA,
UPI000013E845,
UPI00001678CF
EMBL:
AK292794,
U58331,
BC020740,
BX537948,
X95191
Ensembl:
ENSG00000170624
KO:
hsa:6444
|
Nucleutide sequences |
EMBL-CDS:
BAF85483.1,
CAA64490.1,
AAH20740.1,
CAD97916.1,
AAC50921.1
Ensembl_TRS:
ENST00000517913,
ENST00000337851,
ENST00000435422
|
Protein sequencees |
Ensembl_PRO:
ENSP00000403003,
ENSP00000338343,
ENSP00000429378
RefSeq:
NP_758447.1,
XP_011532923.1,
NP_001121681.1,
XP_005266024.1,
XP_016865212.1,
XP_005266023.1,
XP_016865213.1,
NP_000328.2
|
Others |
UniRef100:
UniRef100_Q92629
UniRef90:
UniRef90_P82347
UniRef50:
UniRef50_P82347
UniGene:
Hs.387207,
Hs.644733
CCDS:
CCDS47327.1,
CCDS47325.1,
CCDS47326.1
|
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Refseq |
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