UniProtKB/Swiss-Prot P03901: Variant p.Cys32Arg

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

32 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Cysteine (C) to Arginine (R) at position 32 (C32R, p.Cys32Arg). 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 (C) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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
Variant description:

In colorectal cancer. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs267606892 [ dbSNP | Ensembl ]

Sequence information Variant position:

32 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:

FTISLLGMLVYRSHLMSSLL C LEGMMLSLFIMATLMTLNTH 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                         FTISLLGMLVYRSHLMSSLLCLEGMMLSLFIM--ATLMTLNTH

Gorilla                       FTISLLGMLVYRSHLMSSLLCLEGMMLSLFIM--ATLMTLN

                              FILSLMGMLVYRSHLMSSLLCLEGMMLSLFVM--MSVTILN

Rhesus macaque                FAISLLGMLTYRSHLVASLLCLEGMMMSLFIM--ATLIASN

Chimpanzee                    FTISLLGMLVYRSHLMSSLLCLEGMMLSLFIM--ATLMTLN

Mouse                         FSLSLLGTLMFRSHLMSTLLCLEGMVLSLFIM--TSVTSLN

Rat                           FTLSLLGTFMFRSHLMSTLLCLEGMMLSLFVM--TSTSTLN

Pig                           FAIALAGLLMYRSHLMSSLLCLEGMMLSLFIM--STLIILN

Bovine                        FTVSLVGLLMYRSHLMSSLLCLEGMMLSLFVM--AALTILN

Rabbit                        FILALLGMLVYRSHLMSSLLCLEGMMLSLFVL--ITLTALN

Goat                          FAVSLTGLLMYRSHLMSSLLCLEGMMLSLFIM--ATLMILN

Sheep                         FTVSLTGLLMYRSHLMSSLLCLEGMMLSLFIL--ATLMILN

Cat                           FIMSLMGLLMYRSHLMSSLLCLEGMMLSLFIM--MAVAILN

Horse                         FTVSLVGLLMYRSHLMSSLLCLEGMMLSLFVM--ATMMVLN

Chicken                       FTFSSLGLAFHRTHLISALLCLESMMLSMFIP--LSIWPVE

Xenopus laevis                FILGLTGLALNRSPILSILLCLEGMLLMSMDG--IVLTPLH

Zebrafish                     FMLGLAGLTFHRVHLLSALLCLEGMMLSLFIS--MALWTLK

Caenorhabditis elegans        LFVSLFMFIFKWQRLIFILISLEFMMLSLF---------LK

Drosophila                    FILGLFCFVSNRKHLLSMLLSLEFIVLMLFFMLFIYLNMLN

Slime mold                    YVIGISGLIFNKNNIINILIISELNLGTLGML--FVLASVE

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
Somatic mutations of the mitochondrial genome in human colorectal tumours.
Polyak K.; Li Y.; Zhu H.; Lengauer C.; Willson J.K.V.; Markowitz S.D.; Trush M.A.; Kinzler K.W.; Vogelstein B.;
Nat. Genet. 20:291-293(1998)
Cited for: VARIANT COLORECTAL CANCER ARG-32;

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.