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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P40692: Variant p.Gly98Ser

DNA mismatch repair protein Mlh1
Gene: MLH1
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Variant information Variant position: help 98
Type of variant: help LB/B
Residue change: help From Glycine (G) to Serine (S) at position 98 (G98S, p.Gly98Ser).
Physico-chemical properties: help Change from glycine (G) to small size and polar (S)
BLOSUM score: help 0
Variant description: help Risk factor for LYNCH2; no effect on MLH1 splicing.
Other resources: help


Sequence information Variant position: help 98
Protein sequence length: help 756
Location on the sequence: help ERFTTSKLQSFEDLASISTY G FRGEALASISHVAHVTITTK
Residue conservation: help 
Human                         ERFTTSKLQSFEDLASISTYGFRGEALASISHVAHVTITTK

Mouse                         ERFTTSKLQTFEDLASISTYGFRGEALASISHVAHVTITTK

Rat                           ERFTTSKLQTFEDLAMISTYGFRGEALASISHVAHVTITTK

Slime mold                    ERFTTSKLTKFEDLRSIQSFGFRGEALSSISHVSHLKILTK

Baker's yeast                 ERFTTSKLQKFEDLSQIQTYGFRGEALASISHVARVTVTTK

Fission yeast                 QRFSTSKIDNFNDLQHLQTFGFRGEALASISHVAKVTVVTK
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 756 DNA mismatch repair protein Mlh1
Alternative sequence 1 – 241 Missing. In isoform 2.
Alternative sequence 1 – 101 MSFVAGVIRRLDETVVNRIAAGEVIQRPANAIKEMIENCLDAKSTSIQVIVKEGGLKLIQIQDNGTGIRKEDLDIVCERFTTSKLQSFEDLASISTYGFRG -> MAF. In isoform 3.



Literature citations
A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.
Tournier I.; Vezain M.; Martins A.; Charbonnier F.; Baert-Desurmont S.; Olschwang S.; Wang Q.; Buisine M.P.; Soret J.; Tazi J.; Frebourg T.; Tosi M.;
Hum. Mutat. 29:1412-1424(2008)
Cited for: VARIANT LYNCH2 ILE-330 DEL; VARIANTS HIS-41; ARG-67; ARG-77; SER-98; SER-101; ASP-101; LYS-116; MET-117; ASN-126; MET-213; SER-215; SER-216; PHE-260; CYS-265; HIS-265; ASP-320; ALA-326; ILE-330 DEL; TRP-474; GLN-474; ASP-539; PRO-549; THR-551; ARG-585; ARG-603; HIS-607; PRO-619; SER-640; LEU-640; VAL-655; SER-656; ARG-666; THR-681 AND ARG-689;
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.