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UniProtKB/Swiss-Prot P03915 : Variant p.Thr331Ala
NADH-ubiquinone oxidoreductase chain 5
Gene: MT-ND5
Variant information
Variant position: 331 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: LB/BThe 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 Threonine (T) to Alanine (A) at position 331 (T331A, p.Thr331Ala).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 medium size and polar (T) to small size and hydrophobic (A)The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: 0The 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.
Sequence information
Variant position: 331 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 603 The length of the canonical sequence.
Location on the sequence:
GLMMVTIGINQPHLAFLHIC
T HAFFKAMLFMCSGSIIHNLN
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 GLMMVTIGINQPHLAFLHICT HAFFKAMLFMCSGSIIHNLN
Gorilla GLMVATIGIGQPHLAFLHICT HAFFKAMLFMCSGSIIHNLN
GLMMVTIGINQPYLAFLHICT HAFCKAMLFMCSGSVIHSLN
Chimpanzee GLMMVTIGINQPHLAFLHICT HAFFKAMLFMCSGSIIHNLN
Mouse GLMMVTLGMNQPHLAFLHICT HAFFKAMLFMCSGSIIHSLA
Rat GLMMVTLGINQPYLAFLHICT HAFFKAMLFMCSGSIIHSLN
Pig GLMMVTIGINQPHLAFLHICM HAFFKAMLFMCSGSIIHSLN
Bovine GLMMVTIGINQPYLAFLHICT HAFFKAMLFMCSGSIIHSLN
Rabbit GLMMVTIGINQPHLAFLHICT HAFFKAMLFLCSGSIIHSLN
Sheep GLMMVTIGINQPHLAFLHICT HAFFKAMLFMCSGSIIHSLN
Cat GLMIVTIGINQPYLAFLHICT HAFFKAMLFMCSGSIIHSLN
Horse GLMIVTIGINQPYLAFLHICT HAFFKAMLFMCSGSIIHSLN
Chicken GLMMVTIGLDLPQLAFLHIST HAFFKAMLFLCSGLIIHSLN
GLMMVTIGINQPHLAFLHICT HAFFKAMLFMCSGSIIHNLN
Xenopus laevis GLMMVTIGL-IFQLAFFHICN NAFFKVYYFFCSGQYSSCLN
Zebrafish GLMMVAIGLNQPHLAFFHICT HAFFKAMLFLCSGAIIHSLN
Caenorhabditis elegans GFSMVTLGLGLSFISFIHLVS HALFKSCLFMQVGYIIHCSF
Drosophila GLMMSILSMGFLKLAMFHLLT HALFKALLFMCAGAIIHNMN
Slime mold GYMIFACGLLNYNASIYHLTT HAFFKALLFLSAGSVIHGLN
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 – 603
NADH-ubiquinone oxidoreductase chain 5
Transmembrane
325 – 347
Helical
Literature citations
Normal variants of human mitochondrial DNA and translation products: the building of a reference data base.
Marzuki S.; Noer A.S.; Lertrit P.; Thyagarajan D.; Kapsa R.; Utthanaphol P.; Byrne E.;
Hum. Genet. 88:139-145(1991)
Cited for: VARIANTS SER-17; SER-95; PRO-99; ASP-146; VAL-160; SER-165; SER-304; ALA-331 AND GLY-503;
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.