UniProtKB/SwissProt variant VAR

Leucine--tRNA ligase, cytoplasmic
Gene: LARS1
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Variant information Variant position:

373
Type of variant:

LP/P [Disclaimer]
Residue change:

From Tyrosine (Y) to Cysteine (C) at position 373 (Y373C, p.Tyr373Cys).
Physico-chemical properties:

Change from large size and aromatic (Y) to medium size and polar (C)
BLOSUM score:

-2
Variant description:

In ILFS1.
Other resources:

Variant rs201861847 [ dbSNP | Ensembl ]

Sequence information Variant position:

373
Protein sequence length:

1176
Location on the sequence:

MGEEILGASLSAPLTSYKVI Y VLPMLTIKEDKGTGVVTSVP
Residue conservation:

Human                         MGEEILGASLSAPLTSYKVIYVLPMLTIKEDKGTGVVTSVP

Mouse                         MGEEILGASLSAPLTCYKVVYVLPMLTIKEDKGTGVVTSVP

Caenorhabditis elegans        AGSKILGAPLSAPLAKYERVYALPMLTIKDDKGTGVVTSVP

Slime mold                    EGSDILGAALKAPLAINPIVYVLPMLTIDENKGTGVVTSVP

Baker's yeast                 PGKAFIGTKIHAPQSVYPELRILPMETVIATKGTGVVTCVP

Fission yeast                 KGQDLIGALVNAPLSVHKQVYVLPMETVLATKGTGVVTSVP

Sequence annotation in neighborhood:

Type	Positions	Description
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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9P2J5: Variant p.Tyr373Cys