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UniProtKB/Swiss-Prot Q13126: Variant p.Val56Ile

S-methyl-5'-thioadenosine phosphorylase
Gene: MTAP
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Variant information Variant position: help 56
Type of variant: help LB/B
Residue change: help From Valine (V) to Isoleucine (I) at position 56 (V56I, p.Val56Ile).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 3
Other resources: help


Sequence information Variant position: help 56
Protein sequence length: help 283
Location on the sequence: help TPFGKPSDALILGKIKNVDC V LLARHGRQHTIMPSKVNYQA
Residue conservation: help 
Human                         TPFGKPSDALILGK----IKNVDCVLLA-RHGRQHTIMPSKVNYQA

Rhesus macaque                TPFGKPSDALILGK----IKNVDCVLLA-RHGRQHTIMPSK

Mouse                         TPFGKPSDALILGK----IKNVDCVLLA-RHGRQHTIMPSK

Bovine                        TPFGKPSDALVLGK----IKNVDCVLLA-RHGRQHTIMPSK

Xenopus tropicalis            TPFGKPSDALVLGK----IKNVDCVLLASRHGRQHTIAPTN

Zebrafish                     TPYGKPSDALILGK----IKNVDCVLLA-RHGRQHTIMPTN

Caenorhabditis elegans        TPYGKPSDDVVEGT----INGVECVLLA-RHGRKHDIMPGN

Drosophila                    TPYGEPSDALIEGE----INGVQCVLLA-RHGRKHDIMPSN

Baker's yeast                 TPWGTTSSPVTISQFVGTNSHFHVAFIA-RHGINHEYPPTK

Fission yeast                 TPWGYPASPISIAR---TTSGFLIAFLA-RHGVGHIYTPTE
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 283 S-methyl-5'-thioadenosine phosphorylase
Modified residue 51 – 51 N6-acetyllysine
Beta strand 53 – 59



Literature citations
Construction of a 2.8-megabase yeast artificial chromosome contig and cloning of the human methylthioadenosine phosphorylase gene from the tumor suppressor region on 9p21.
Olopade O.I.; Pomykala H.M.; Hagos F.; Sveen L.W.; Espinosa R. III; Dreyling M.H.; Gursky S.; Stadler W.M.; le Beau M.M.; Bohlander S.K.;
Proc. Natl. Acad. Sci. U.S.A. 92:6489-6493(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT ILE-56; Identification of human methylthioadenosine phosphorylase (MTAP) mRNA mutation in colon cancer cell line COLO 205.
Li Q.; Cao W.-X.; Zhang Y.; Shi M.-M.; Liu B.-Y.; Zhu Z.-G.; Lin Y.-Z.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT ILE-56; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT ILE-56;
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.