| Type | Description |
|---|---|
| Definition | solute carrier family 5 member 7 |
| Date | Results | Publications |
|---|---|---|
| 2020-03-14 11:00:00 | Our observation regarding defective myelination in the recessive form of the SLC5A7-related disorder could suggest that pathogenicity of CHT1 variants is not limited strictly to the transport of choline but may also influence myelination with a combined functional effect. | 31299140 |
| 2019-11-16 11:13:00 | Biallelic loss-of-function SLC5A7 variants cause congenital myasthenic syndrome, while a monoallelic truncatingvariant in the last exon of SLC5A7 was reported in 2 unrelated hereditary motor neuropathy 7 families from Wales | 29782645 |
| 2019-04-27 10:25:00 | SLC5A7 genotype significantly predicted respiratory sinus arrhythmia (RSA) stress responsivity (beta=-0.023; p=0.028) and heart rate (HR) stress responsivity (beta=0.004; p=0.002). T-allele carriers exhibited RSA suppression and HR acceleration in response to stress while G/G homozygotes did not suppress RSA and exhibited less HR acceleration. | 30005279 |
| 2018-07-28 10:03:00 | Lack of association between SLC5A7 polymorphisms and Tourette syndrome in a Chinese Han population | 28830823 |
| 2017-11-11 10:09:00 | Here we describe an autosomal recessive presynaptic congenital myasthenic syndrome presenting with a broad clinical phenotype due to homozygous SLC5a7 missense mutations. Phenotype ranges from classical presentation of a congenital myasthenic syndrome in one patient (p.Pro210Leu), to severe neurodevelopmental delay with brain atrophy (p.Ser94Arg) and extend the clinical outcomes to infantile lethality (p.Val112Glu). | 29088354 |
| Type | IDs |
|---|---|
| Synonymous | CHT, CHT1, CMS20, HMN7A |
| Gene |
UniProtKB-ID:
SC5A7_HUMAN,
B2RCU2_HUMAN,
B4DUU7_HUMAN,
Q2T9H3_HUMAN
UniprotKB:
Q9GZV3,
B2RCU2,
B4DUU7,
Q2T9H3
UniParc:
UPI00017A7FFB,
UPI000067CA64,
UPI0000070792,
UPI0001750852
EMBL:
AJ401466,
BC111525,
AK315280,
AJ308384,
AF276871,
AJ308382,
AJ308380,
AJ308378,
AJ308381,
AJ308379,
AJ308383,
AB043997,
AK300801,
AC009963,
BC111524
Ensembl:
ENSG00000115665
KO:
hsa:60482
|
| Nucleutide sequences |
EMBL-CDS:
CAC03717.1,
CAC88115.1,
AAG25940.1,
AAY14927.1,
BAB18161.1,
AAI11526.1,
BAG37689.1,
BAG62459.1,
AAI11525.1
Ensembl_TRS:
ENST00000409059,
ENST00000264047
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000264047,
ENSP00000387346
RefSeq:
XP_016860117.1,
XP_016860118.1,
NP_001291936.1,
NP_001291934.1,
NP_068587.1,
NP_001291935.1,
XP_011509882.1
|
| Others |
UniRef100:
UniRef100_Q9GZV3,
UniRef100_B4DUU7,
UniRef100_B2RCU2
UniRef90:
UniRef90_B4DUU7,
UniRef90_Q9GZV3
UniRef50:
UniRef50_A0A341CIJ7,
UniRef50_Q9GZV3
UniGene:
Hs.287758
CCDS:
CCDS2074.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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