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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9P2J5: Variant p.Tyr373Cys

Leucine--tRNA ligase, cytoplasmic
Gene: LARS1
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Variant information Variant position: help 373
Type of variant: help LP/P [Disclaimer]
Residue change: help From Tyrosine (Y) to Cysteine (C) at position 373 (Y373C, p.Tyr373Cys).
Physico-chemical properties: help Change from large size and aromatic (Y) to medium size and polar (C)
BLOSUM score: help -2
Variant description: help In ILFS1.
Other resources: help


Sequence information Variant position: help 373
Protein sequence length: help 1176
Location on the sequence: help MGEEILGASLSAPLTSYKVI Y VLPMLTIKEDKGTGVVTSVP
Residue conservation: help
Human                         MGEEILGASLSAPLTSYKVIYVLPMLTIKEDKGTGVVTSVP

Mouse                         MGEEILGASLSAPLTCYKVVYVLPMLTIKEDKGTGVVTSVP

Caenorhabditis elegans        AGSKILGAPLSAPLAKYERVYALPMLTIKDDKGTGVVTSVP

Slime mold                    EGSDILGAALKAPLAINPIVYVLPMLTIDENKGTGVVTSVP

Baker's yeast                 PGKAFIGTKIHAPQSVYPELRILPMETVIATKGTGVVTCVP

Fission yeast                 KGQDLIGALVNAPLSVHKQVYVLPMETVLATKGTGVVTSVP

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1176 Leucine--tRNA ligase, cytoplasmic
Region 260 – 509 Editing domain
Alternative sequence 1 – 691 Missing. In isoform 3.
Beta strand 372 – 376



Literature citations
Identification of a mutation in LARS as a novel cause of infantile hepatopathy.
Casey J.P.; McGettigan P.; Lynam-Lennon N.; McDermott M.; Regan R.; Conroy J.; Bourke B.; O'Sullivan J.; Crushell E.; Lynch S.; Ennis S.;
Mol. Genet. Metab. 106:351-358(2012)
Cited for: VARIANT ILFS1 CYS-373; VARIANT ARG-82;
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.