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324940 aars

324940

aars

alanyl-tRNA synthetase

protein-coding

Danio rerio

基因描述

Type Description
Definition alanyl-tRNA synthetase

研究结论

Date Results Publications
2019-05-18 10:50:00 all three mutations caused a pathological phenotype of neural abnormalities when expressed in zebrafish, while expression of the human wild-type messenger RNA (mRNA) did not. Our data indicate that not only functional null or hypomorphic alleles, but also hypermorphic AARS alleles can cause dominantly inherited axonal Charcot-Marie-Tooth (CMT) disease . 30124830

名称对应

Type IDs
Synonymous im:7146712, si:ch211-223o1.6, wu:fc48h07, zgc:113920
Gene
UniProtKB-ID: Q1LVL3_DANRE, F1QBG7_DANRE, Q1LVL2_DANRE
UniprotKB: Q1LVL3, F1QBG7, Q1LVL2
UniParc: UPI00015A5D94, UPI0000547A7C, UPI0000547A7B
EMBL: BX649641, BX571681
Ensembl: ENSDARG00000069142
KO: dre:324940
Nucleutide sequences
Ensembl_TRS: ENSDART00000136544, ENSDART00000076695, ENSDART00000100401
Protein sequencees
Ensembl_PRO: ENSDARP00000120649, ENSDARP00000071166, ENSDARP00000091174
RefSeq: NP_001037775.1, NP_001035124.2, XP_005159107.1
Others
UniRef100: UniRef100_Q1LVL3, UniRef100_F1QBG7
UniRef90: UniRef90_F1QBG7, UniRef90_A0A286YAH8
UniRef50: UniRef50_A0A286YAH8, UniRef50_F1QBG7
UniGene: Dr.75848

全选

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