UniProtKB/Swiss-Prot P03891: Variant p.Ala331Thr

NADH-ubiquinone oxidoreductase chain 2
Gene: MT-ND2
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Variant information Variant position:

331 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 Alanine (A) to Threonine (T) at position 331 (A331T, p.Ala331Thr). 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 small size and hydrophobic (A) to medium size and polar (T) 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.

Variant rs3021088 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

VKMKWQFEHTKPTPFLPTLI A LTTLLLPISPFMLMIL 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                         VKMK-WQFEH--T-KPTPFLPTLIALTTL----LLPISPFMLMIL-

Gorilla                       VKMK-WQLEY--T-KPTPFLPTLITLTTL----LLPI

                              MKMK-WQFEY--T-KKATLLPPLIITSTM----LLPL

Chimpanzee                    VKMK-WQFEH--T-KPTPFLPTLITLTTL----LLPI

Mouse                         SKMM-THQTK--T-KPNLMFSTLAIMSTM----TLPL

Rat                           SKMISHHHQN--P-KHNFILPTLTVLSTL----TLPL

Pig                           MKMK-WQFEH--T-KQMKLLPTMIVLSTL----VLPM

Bovine                        MKMK-WQFPL--M-KKMTFLPTMVVLSTM----MLPL

Rabbit                        LKMK-WQFES--T-KRMPLITPLIILSTM----LLPL

Goat                          MKMK-WQFST--T-KRMTLLPTLTVLSTM----LLPL

Sheep                         MKMK-WQFPT--T-KRMTLLPTMTVLSTM----LLPL

Cat                           MKMK-WRFEC--T-KKMTFLPPLVVMSTM----LLPL

Horse                         MKMK-WQFE---T-KRITLLPPLIVMSSL----LLPL

Chicken                       -HMKLWRTNK----TLNTPTAILTALSTT----LLPL

Xenopus laevis                ASLT-WRHHS--K-QPTLLLSIALILSSF----IIPI

Zebrafish                     SAPH-WRVQT--T-QNSLPLTISVTVTMG----LLPL

Caenorhabditis elegans        NKMN-Y-----------FIIFPLMVISII--------

Drosophila                    -----WIMKMNMNSINYNMYMIMTFFSIF----GLFL

Slime mold                    VGVETYKMTKGGSITNIVGGIIWIIISQIYLDEIISI

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 – 347	NADH-ubiquinone oxidoreductase chain 2
Transmembrane	326 – 346	Helical

Literature citations
Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs.
Horai S.; Hayasaka K.; Kondo R.; Tsugane K.; Takahata N.;
Proc. Natl. Acad. Sci. U.S.A. 92:532-536(1995)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ILE-43; LEU-325 AND THR-331;

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.