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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P52701: Variant p.Gly39Glu

DNA mismatch repair protein Msh6
Gene: MSH6
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Variant information Variant position: help 39
Type of variant: help LB/B
Residue change: help From Glycine (G) to Glutamate (E) at position 39 (G39E, p.Gly39Glu).
Physico-chemical properties: help Change from glycine (G) to medium size and acidic (E)
BLOSUM score: help -2
Other resources: help


Sequence information Variant position: help 39
Protein sequence length: help 1360
Location on the sequence: help DANKASARASREGGRAAAAP G ASPSPGGDAAWSEAGPGPRP
Residue conservation: help 
Human                         DANKA-SARASREGGRAAAAPGASPSPGGDAAWSEAGPGPRP

Mouse                         DTKKA-AAEASRQGAAAS---GASASRGGDAAWSEAEPGSR

Chicken                       NHQRINLPYENLEASLSRMLFL-----------------SS

Drosophila                    ---GG-TPTNTLLNYFSKS--------------------PA

Slime mold                    TKQPEPIIEEGFDSFFDD-IPTEELEPDLNSIPISSSQQTS

Baker's yeast                 SSQKK-MKQSSLLSFFSKQVP------------------SG

Fission yeast                 DSSAK-TKQKTLFGFFSK-IPNVKQEKSDSTL-------SS
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1360 DNA mismatch repair protein Msh6
Region 1 – 84 Disordered
Modified residue 41 – 41 Phosphoserine
Modified residue 43 – 43 Phosphoserine
Alternative sequence 1 – 302 Missing. In isoform 4.



Literature citations
hMSH2 forms specific mispair-binding complexes with hMSH3 and hMSH6.
Acharya S.; Wilson T.; Gradia S.; Kane M.F.; Guerrette S.; Marsischky G.T.; Kolodner R.D.; Fishel R.;
Proc. Natl. Acad. Sci. U.S.A. 93:13629-13634(1996)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]; VARIANT GLU-39; SUBUNIT; Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GLU-39; VAL-396; ALA-623 AND VAL-886; A probability-based approach for high-throughput protein phosphorylation analysis and site localization.
Beausoleil S.A.; Villen J.; Gerber S.A.; Rush J.; Gygi S.P.;
Nat. Biotechnol. 24:1285-1292(2006)
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-14; SER-41 AND SER-43; VARIANT [LARGE SCALE ANALYSIS] GLU-39; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]; Germ-line msh6 mutations in colorectal cancer families.
Kolodner R.D.; Tytell J.D.; Schmeits J.L.; Kane M.F.; Das Gupta R.; Weger J.; Wahlberg S.; Fox E.A.; Peel D.; Ziogas A.; Garber J.E.; Syngal S.; Anton-Culver H.; Li F.P.;
Cancer Res. 59:5068-5074(1999)
Cited for: VARIANTS CRC ILE-285; ARG-566; GLY-803 AND THR-1087; VARIANTS GLU-39; ASP-220; VAL-396 AND LEU-800; Sequence analysis of the mismatch repair gene hMSH6 in the germline of patients with familial and sporadic colorectal cancer.
Plaschke J.; Kruppa C.; Tischler R.; Bocker T.; Pistorius S.; Dralle H.; Rueschoff J.; Saeger H.D.; Fishel R.; Schackert H.K.;
Int. J. Cancer 85:606-613(2000)
Cited for: VARIANT CRC SER-340; VARIANT GLU-39; MSH6 germline mutations are rare in colorectal cancer families.
Peterlongo P.; Nafa K.; Lerman G.S.; Glogowski E.; Shia J.; Ye T.Z.; Markowitz A.J.; Guillem J.G.; Kolachana P.; Boyd J.A.; Offit K.; Ellis N.A.;
Int. J. Cancer 107:571-579(2003)
Cited for: VARIANT CRC ALA-54; VARIANTS GLU-39; ALA-509; MET-854 AND ALA-878;
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.