Variant position: 393 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 934 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human RQTLQED--LLRRFPDLNRLAK KFQRQAANLQDCYRLYQGINQ
Mouse RQSLQED--LLRRFPDLNRLAK KFQRQAANLQDCYRLYQGI
Rat RRALQED--LLRRFPDLNRLAK KFQRQAANLQDCYRLYQGV
Bovine RQNLQED--LLRRFPDLNRLAK KFQRQAANLQDCYRLYQGI
Drosophila METLSLD--YLKRIPDILMLTK KLMRRKANLQDLFRIYQVI
Slime mold RQSLRSN--DLKKIGDLDRLSK KLHGQKATLEDCVNLYGIV
Baker's yeast RQMLTSE--YLPMIPDIRRLTK KLNKR-GNLEDVLKIYQFS
Fission yeast RQLLLDDDHLLRSIPDIPKLCR RLTRGSASLEDVVRIYQMA
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
2 – 934 DNA mismatch repair protein Msh2
387 – 395
HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions.
Heinen C.D.; Wilson T.; Mazurek A.; Berardini M.; Butz C.; Fishel R.;
Cancer Cell 1:469-478(2002)
Cited for: VARIANTS HNPCC1 HIS-167; MET-393; PRO-524; ASN-596 DEL; LEU-622; SER-674 AND ARG-905; CHARACTERIZATION OF VARIANTS HNPCC1 HIS-167; MET-393; PRO-524; ASN-596 DEL; LEU-622; SER-674 AND ARG-905;
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.