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UniProtKB/Swiss-Prot P03897: Variant p.Thr114Ala

NADH-ubiquinone oxidoreductase chain 3
Gene: MT-ND3
Variant information

Variant position:  114
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 Threonine (T) to Alanine (A) at position 114 (T114A, p.Thr114Ala).
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:  0
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.

Sequence information

Variant position:  114
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  115
The length of the canonical sequence.

Location on the sequence:   LIIILALSLAYEWLQKGLDW  T E
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                         LIIILALSLAYEWLQKGLDWTE

Gorilla                       LIIILTLSLAYEWLQKGLDWTE


Chimpanzee                    LITILALSLAYEWLQKGLDWTE

Mouse                         LVTILSLGLAYEWTQKGLEWTE

Rat                           LVTILALGLSYEWTQKGLEWTE

Pig                           LLILLAASLAYEWTQKGLEWAE

Bovine                        LIILLAVSLAYEWTQKGLEWTE

Rabbit                        LISILALGLAYEWIQKGLEWVE

Sheep                         LIFLLAVSLAYEWTQKGLEWTE

Cat                           LISLLAASLAYEWTQKGLEWTE

Horse                         LISLLAISLAYEWTQKGLEWTE

Chicken                       IIALLTFGLIYEWTQGGLEWAE

Xenopus laevis                ILTLLTLGLIYEWLQGGLEWAE

Zebrafish                     VLILLTLGLAYEWAQGGLEWAE

Caenorhabditis elegans        FIFILG-GFYMEWWYGKLVWVI

Drosophila                    FILILLIGLYHEWNQGMLNWSN

Slime mold                    FLIILTIGFIYEIKKGALDWS-

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.

Chain 1 – 115 NADH-ubiquinone oxidoreductase chain 3

Literature citations

Assignment of a polymorphic polypeptide to the human mitochondrial DNA unidentified reading frame 3 gene by a new peptide mapping strategy.
Oliver N.A.; Greenberg B.D.; Wallace D.C.;
J. Biol. Chem. 258:5834-5839(1983)
Cited for: VARIANTS ASP-10 AND ALA-114;

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 VAL-53 AND ALA-114;

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.