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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P56192: Variant p.Pro800Thr

Methionine--tRNA ligase, cytoplasmic
Gene: MARS1
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Variant information Variant position: help 800
Type of variant: help LP/P [Disclaimer]
Residue change: help From Proline (P) to Threonine (T) at position 800 (P800T, p.Pro800Thr).
Physico-chemical properties: help Change from medium size and hydrophobic (P) to medium size and polar (T)
BLOSUM score: help -1
Variant description: help In CMT2U.
Other resources: help


Sequence information Variant position: help 800
Protein sequence length: help 900
Location on the sequence: help ILLTNFLCTLPAGHQIGTVS P LFQKLENDQIESLRQRFGGG
Residue conservation: help
Human                         ILLTNF-LCTLPAGHQIG-TVSPLFQKLENDQIESLRQRFGGG

Mouse                         ILATSF-ICTLPAGHRIG-TVSPLFQKLENDQIENLRQRFG

Bovine                        ILPTNF-LCTLPAGHQIG-TVSPLFQKLENDQIESLKQRFS

Xenopus laevis                VLTTDF-CCCLQSGHQIG-NVSPLFQKLENDQIESLRKRFG

Caenorhabditis elegans        -LFTPFPICYLKAGHKIG-QPSPLFQKLDPAQIAEFKAKFG

Slime mold                    -YSTHFDINAIPAGHEISKEILPLVKKIEADDLKKWRTKFS

Baker's yeast                 -IDDRFHLAILE-GHNIN-KAEYLFQRIDEKKIDEWRAKYG

Fission yeast                 -IPDTWELCLLP-GHRIG-EPEYLFTRIDESMEEEWRSKYG

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 900 Methionine--tRNA ligase, cytoplasmic
Alternative sequence 547 – 900 Missing. In isoform 2.



Literature citations
Rare variants in methionyl- and tyrosyl-tRNA synthetase genes in late-onset autosomal dominant Charcot-Marie-Tooth neuropathy.
Hyun Y.S.; Park H.J.; Heo S.H.; Yoon B.R.; Nam S.H.; Kim S.B.; Park C.I.; Choi B.O.; Chung K.W.;
Clin. Genet. 86:592-594(2014)
Cited for: INVOLVEMENT IN CMT2U; VARIANT CMT2U THR-800;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.