| Type | Description |
|---|---|
| Definition | succinate-CoA ligase alpha subunit |
| Date | Results | Publications |
|---|---|---|
| 2018-02-17 10:27:00 | We report two Tunisian patients belonging to a consanguineous family with mitochondrial encephalomyopathy. Mutational analysis of SUCLG1 gene showed the presence of c.41T > C in exon 1 in a homozygous state. This mutation substitutes a conserved methionine residue to a threonine at position 14 (p.M14T) located at the SUCLG1 protein mitochondrial targeting sequence. | 29217198 |
| 2017-12-09 12:10:00 | These abnormal phenotypes are rescued upon ectopic expression of wild-type SUCLG1 in the patient's fibroblasts, thus functionally confirming the pathogenic nature of the SUCLG1 VUS identified in this patient and expanding the phenotypic spectrum for SUCLG1 deficiency | 27484306 |
| 2016-12-17 11:01:00 | Long survival, to age 20 years or older, was reported in 12% of SUCLA2 and in 10% of SUCLG1 patients. | 26475597 |
| 2016-10-08 11:12:00 | First Chinese report of succinyl-CoA ligase deficiency caused by novel SUCLG1 mutations; five novel pathogenic mutations in SUCLG1 were identified | 26028457 |
| 2013-03-30 10:06:00 | 3 novel mutations have been identified in patients with the mitochondrial DNA depletion syndrome (c.1048G>A and c.1049G>T in SUCLA2 and c.531+4A>T in SUCLG1). | 22980518 |
| Type | IDs |
|---|---|
| Synonymous | GALPHA, MTDPS9, SUCLA1 |
| Gene |
UniProtKB-ID:
SUCA_HUMAN
UniprotKB:
P53597
UniParc:
UPI000014BF59
EMBL:
AF104921,
Z68204,
AC096770,
BC000504
Ensembl:
ENSG00000163541
KO:
hsa:8802
|
| Nucleutide sequences |
EMBL-CDS:
CAA92426.1,
AAD17940.2,
AAH00504.1
Ensembl_TRS:
ENST00000393868
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000377446
RefSeq:
NP_003840.2
|
| Others |
UniRef100:
UniRef100_P53597
UniRef90:
UniRef90_P53597
UniRef50:
UniRef50_P53597
UniGene:
Hs.270428
CCDS:
CCDS1967.2
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| 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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