UniProtKB/Swiss-Prot P03901: Variant p.Met36Ile

NADH-ubiquinone oxidoreductase chain 4L
Gene: MT-ND4L
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Variant information Variant position:

36 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 Isoleucine (I) at position 36 (M36I, p.Met36Ile). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. 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:

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

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

LLGMLVYRSHLMSSLLCLEG M MLSLFIMATLMTLNTHSLLA 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                         LLGMLVYRSHLMSSLLCLEGMMLSLFIM--ATLMTLNTHSLLA

Gorilla                       LLGMLVYRSHLMSSLLCLEGMMLSLFIM--ATLMTLNTHFL

                              LMGMLVYRSHLMSSLLCLEGMMLSLFVM--MSVTILNNHLT

Rhesus macaque                LLGMLTYRSHLVASLLCLEGMMMSLFIM--ATLIASNTHFP

Chimpanzee                    LLGMLVYRSHLMSSLLCLEGMMLSLFIM--ATLMTLNTHSL

Mouse                         LLGTLMFRSHLMSTLLCLEGMVLSLFIM--TSVTSLNSNSM

Rat                           LLGTFMFRSHLMSTLLCLEGMMLSLFVM--TSTSTLNSNSM

Pig                           LAGLLMYRSHLMSSLLCLEGMMLSLFIM--STLIILNTHFT

Bovine                        LVGLLMYRSHLMSSLLCLEGMMLSLFVM--AALTILNSHFT

Rabbit                        LLGMLVYRSHLMSSLLCLEGMMLSLFVL--ITLTALNTHFT

Goat                          LTGLLMYRSHLMSSLLCLEGMMLSLFIM--ATLMILNSHFT

Sheep                         LTGLLMYRSHLMSSLLCLEGMMLSLFIL--ATLMILNSHFT

Cat                           LMGLLMYRSHLMSSLLCLEGMMLSLFIM--MAVAILNNHLT

Horse                         LVGLLMYRSHLMSSLLCLEGMMLSLFVM--ATMMVLNTHFT

Chicken                       SLGLAFHRTHLISALLCLESMMLSMFIP--LSIWPVENQTP

Xenopus laevis                LTGLALNRSPILSILLCLEGMLLMSMDG--IVLTPLHLTIY

Zebrafish                     LAGLTFHRVHLLSALLCLEGMMLSLFIS--MALWTLKTESM

Caenorhabditis elegans        LFMFIFKWQRLIFILISLEFMMLSLF---------LKFSYV

Drosophila                    LFCFVSNRKHLLSMLLSLEFIVLMLFFMLFIYLNMLNYESY

Slime mold                    ISGLIFNKNNIINILIISELNLGTLGML--FVLASVELNDI

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 – 98	NADH-ubiquinone oxidoreductase chain 4L
Transmembrane	29 – 49	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 ILE-36; SER-57 AND THR-61;

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.