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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P54277: Variant p.Gly501Arg

PMS1 protein homolog 1
Gene: PMS1
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Variant information Variant position: help 501
Type of variant: help LB/B
Residue change: help From Glycine (G) to Arginine (R) at position 501 (G501R, p.Gly501Arg).
Physico-chemical properties: help Change from glycine (G) to large size and basic (R)
BLOSUM score: help -2
Other resources: help


Sequence information Variant position: help 501
Protein sequence length: help 932
Location on the sequence: help NEEEAGLENSSEISADEWSR G NILKNSVGENIEPVKILVPE
Residue conservation: help
Human                         NEEEAGLENS-----SEISADEWSRGNIL--------------------KNSVGENIEPVKILVPE

Slime mold                    VFSNVNKSKNSSNSGSSNSLDDIIDDNEFISRSNGNSSNFM

Baker's yeast                 EFQNI-TSPD-----KARSLEKVVEEPVY------------

Fission yeast                 TDTSMQKTID-----SSFPLKQPINKP--------------

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 932 PMS1 protein homolog 1



Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GLN-27; LYS-202; ARG-501; SER-632; ASP-720 AND HIS-793; Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer.
Wang Q.; Lasset C.; Desseigne F.; Saurin J.-C.; Maugard C.; Navarro C.; Ruano E.; Descos L.; Trillet-Lenoir V.; Bosset J.-F.; Puisieux A.;
Hum. Genet. 105:79-85(1999)
Cited for: VARIANTS THR-394 AND ARG-501;
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.