UniProtKB/Swiss-Prot P03905: Variant p.Met294Thr

NADH-ubiquinone oxidoreductase chain 4
Gene: MT-ND4
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Variant information Variant position:

294 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 Methionine (M) to Threonine (T) at position 294 (M294T, p.Met294Thr). 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 hydrophobic (M) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-1 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

Sequence information Variant position:

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

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

SICLRQTDLKSLIAYSSISH M ALVVTAILIQTPWSFTGAVI 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                         SICLRQTDLKSLIAYSSISHMALVVTAILIQTPW-SFTGAVI

Gorilla                       SISLRQTDLKSLIAYSSISHMALVVAAILIQTPW-SFTGAV

                              SICLRQTDLKSLIAYSSVSHMALVIVAVLIQTPW-SYMGAT

Chimpanzee                    SICLRQTDLKSLIAYPSVSHMALVVTAILIQTPW-SFTGAI

Mouse                         SICLRQTDLKSLIAYSSVSHMALVIASIMIQTPW-SFMGAT

Rat                           SICLRQTDLKSLIAYSSVSHMALVITAIMIQTPW-SFMGAT

Pig                           SICLRQTDLKSLIAYSSVSHMALVIVAIMIQTPW-SFMGAT

Bovine                        SICLRQTDLKSLIAYSSVSHMALVIVAILIQTPW-SYMGAT

Rabbit                        SICLRQTDLKSLIAYSSVSHMALVIVAILIQTPW-SFMGAT

Sheep                         SICLRQTDLKSLIAYSSVSHMALVIVAILIQTPW-SYMGAT

Cat                           SICLRQTDLKSLIAYSSVSHMALVIVAVLIQTPW-SYMGAT

Horse                         SICLRQTDLKSLIAYSSVSHMALVIVAVLIQTPW-SYMGAT

Chicken                       SICLRQTDLKSLIAYSSVSHMGLVIAASMIQTQW-SFSGAM

Xenopus laevis                SICLRQTDLKSMIAYSSVSHMGLVISAGNNQTPMKALTGAM

Zebrafish                     LVCLRQTDLKSLIAYSSVGHMGLVAGGILIQTPW-GFTGAI

Caenorhabditis elegans        FCCVFQSDSKALAAYSSVTHMSFLLLSLVFITMS-SKISSV

Drosophila                    LVCLRQTDLKALIAYSSVAHMGIVLSGLLTMTYW-GLCGSY

Slime mold                    IATLTQLDVKRIVAYSSISHMNVIVLGLFSGVLQ-GIEGGI

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 – 459	NADH-ubiquinone oxidoreductase chain 4
Transmembrane	284 – 303	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 PRO-79; PRO-109; THR-132 AND THR-294;

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.