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UniProtKB/Swiss-Prot Q00266: Variant p.Pro357Leu

S-adenosylmethionine synthase isoform type-1
Gene: MAT1A
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Variant information Variant position: help 357
Type of variant: help LP/P [Disclaimer]
Residue change: help From Proline (P) to Leucine (L) at position 357 (P357L, p.Pro357Leu).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help -3
Variant description: help In MATD.
Other resources: help


Sequence information Variant position: help 357
Protein sequence length: help 395
Location on the sequence: help TSQKTERELLDVVHKNFDLR P GVIVRDLDLKKPIYQKTACY
Residue conservation: help 
Human                         TSQKTER-ELLDVVHKNFDLRPGVIVRDLDLKKPIYQKTACY

Mouse                         TSNKTER-ELLEVVNKNFDLRPGVIVRDLDLKKPIYQKTAC

Rat                           TSKKTERDELLEVVNKNFDLRPGVIVRDLDLKKPIYQKTAC

Bovine                        TSQKTER-ELLDVVNKNFDLRPGVIVRDLDLKKPIYQKTAC

Caenorhabditis elegans        TSPLTDE-ELHQIVEDSFDLTPGKIIKELDLKRPIYEKTAE

Baker's yeast                 TATKSDE-EIIDIISKNFDLRPGVLVKELDLARPIYLPTAS
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 395 S-adenosylmethionine synthase isoform type-1
Helix 357 – 363



Literature citations
Molecular mechanisms of an inborn error of methionine pathway. Methionine adenosyltransferase deficiency.
Ubagai T.; Lei K.-J.; Huang S.; Mudd S.H.; Levy H.L.; Chou J.Y.;
J. Clin. Invest. 96:1943-1947(1995)
Cited for: VARIANTS MATD ASP-55; PRO-305; MET-322 AND LEU-357;
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.