UniProtKB/Swiss-Prot O43819 : Variant p.Arg112Trp
Protein SCO2 homolog, mitochondrial
Gene: SCO2
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Variant information
Variant position:
112
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 Arginine (R) to Tryptophan (W) at position 112 (R112W, p.Arg112Trp).
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:
Change from large size and basic (R) to large size and aromatic (W)
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
Variant description:
In MYP6; uncertain significance.
Any additional useful information about the variant.
Other resources:
Links to websites of interest for the variant.
Sequence information
Variant position:
112
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:
266
The length of the canonical sequence.
Location on the sequence:
EALRQAAVGQGDFHLLDHRG
R ARCKADFRGQWVLMYFGFTH
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 EALR---QAAVGQGDFHLLDHRGR ARCKADFRGQWVLMYFGFTH
Mouse EALR---QAAVGQGDFSLLDHKGQ PRCKADFRGQWVLMYFG
Bovine EALR---QAAVGQGDFSLLDHRGR VRCKADFRGQWVLLYFG
Zebrafish EQLR---KVALGQGDFHLLDHTGQ RRTKRDFLGHWVLLYFG
Baker's yeast DANRAYGSVALG-GPFNLTDFNGK PFTEENLKGKFSILYFG
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
42 – 266
Protein SCO2 homolog, mitochondrial
Topological domain
79 – 266
Mitochondrial intermembrane
Domain
85 – 259
Thioredoxin
Literature citations
Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing.
Jiang D.; Li J.; Xiao X.; Li S.; Jia X.; Sun W.; Guo X.; Zhang Q.;
Invest. Ophthalmol. Vis. Sci. 56:339-345(2015)
Cited for: VARIANTS MYP6 TRP-112 AND TRP-120;
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.