UniProtKB/Swiss-Prot P52701: Variant p.Leu396Val

DNA mismatch repair protein Msh6
Gene: MSH6
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Variant information Variant position:

396 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Leucine (L) to Valine (V) at position 396 (L396V, p.Leu396Val). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Variant description:

In LYNCH5; uncertain significance; normal mismatch repair activity. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs2020908 [ dbSNP | Ensembl ]

Sequence information Variant position:

396 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1360 The length of the canonical sequence.
Location on the sequence:

EKRRDEHRRRPDHPDFDAST L YVPEDFLNSCTPGMRKWWQI 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                         EKRRDEHRRRPDHPDFDASTLYVPEDFLNSCTPGMRKWWQI

Mouse                         EKRRDEHRRRPDHPEFNPTTLYVPEEFLNSCTPGMRKWWQL

Chicken                       GKKKDAHRRRQNHPDYDPCTLYVPEDYLNKCTPGMRRWWQL

Drosophila                    DKIKDKEGRRPDHPDYDKSTLHVPEKFLNGLSPGVRQWWVL

Slime mold                    --IKDANGNPKDHPDYDKRTLHIPASCLSKFSPFERQFWDI

Baker's yeast                 --ERDAQRRPKSDPEYDPRTLYIPSSAWNKFTPFEKQYWEI

Fission yeast                 --VRDADQNRVGDPNYDPRTLYIPPSAWATFKPFEKQFWKI

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
Chain	1 – 1360	DNA mismatch repair protein Msh6

Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GLU-39; VAL-396; ALA-623 AND VAL-886; 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; A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.
Drost M.; Zonneveld J.B.; van Hees S.; Rasmussen L.J.; Hofstra R.M.; de Wind N.;
Hum. Mutat. 33:488-494(2012)
Cited for: CHARACTERIZATION OF VARIANT LYNCH5 VAL-20; CHARACTERIZATION OF VARIANTS CRC HIS-976 AND ASP-1021; CHARACTERIZATION OF VARIANTS SER-25; VAL-326; VAL-396; VAL-492; CYS-503; ARG-522; ASN-610; CYS-850; ALA-878; TYR-1026; SER-1087 AND MET-1225;

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.