UniProtKB/Swiss-Prot Q96T76: Variant p.Val197Ile

MMS19 nucleotide excision repair protein homolog
Gene: MMS19
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Variant information Variant position:

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

LB/B 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 Valine (V) to Isoleucine (I) at position 197 (V197I, p.Val197Ile). 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:

3 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
Other resources:

Links to websites of interest for the variant.

Variant rs29001285 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

1030 The length of the canonical sequence.
Location on the sequence:

FIQVMDGEKDPRNLLVAFRI V HDLISRDYSLGPFVEELFEV 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                         FIQVMDGEKDPRNLLVAFRIVHDLISRDYSLGPFVEELFEV

Mouse                         FIQVMDGEKDPRNLLLAFRIVHDLISKDYSLGPFVEELFEV

Bovine                        FIQVMDGEKDPRNLLVAFHIVYDLISRDYSLGPFVEELFEV

Xenopus laevis                FIQVMDGEKDPRNLLVAFYIVQDIVTKNYALGPFVEELFEV

Xenopus tropicalis            FIQVMDGEKDPRNLLVAFHIVQDIITKNYALGPFVEELFEV

Zebrafish                     FVQSVDGERDPRNLLLAFQVAKNIIYRGYDLGKFVEELFEV

Drosophila                    LINSIDGERDPRNLDIIFSFMPEFLS-TYPLLHLAEEMFEI

Slime mold                    YLQFIDNEKDPRNLIFSFKLLPKVIYNIPEHKHFLESLFEI

Fission yeast                 ICSTFAGEKDPRNLMLVFSMLKKILS-TFPIDGFEQQFFDI

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	2 – 1030	MMS19 nucleotide excision repair protein homolog
Alternative sequence	41 – 1030	Missing. In isoform 3.
Alternative sequence	165 – 207	Missing. In isoform 6.

Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GLY-68; TRP-98; ILE-197; HIS-306; VAL-365; PRO-409; GLU-434; ILE-526; VAL-558; ASP-790 AND HIS-983;

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.