UniProtKB/Swiss-Prot P00156: Variant p.Gly34Ser

Cytochrome b
Gene: MT-CYB
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Variant information Variant position:

34 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 Glycine (G) to Serine (S) at position 34 (G34S, p.Gly34Ser). 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 glycine (G) to small size and polar (S) 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
Variant description:

In mitochondrial myopathy; sporadic. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs207459998 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

INHSFIDLPTPSNISAWWNF G SLLGACLILQITTGLFLAMH 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                         INHSFIDLPTPSNISAWWNFGSLLGACLILQITTGLFLAMH

Gorilla                       INHSFIDLPTPSNISTWWNFGSLLGACLILQITTGLFLAMH

                              VNNSFIDLPAPSNISAWWNFGSLLGVCLILQILTGLFLAMH

Rhesus macaque                INRSFIDLPAPPNLSMWWNFGSLLAACLILQIITGLLLAMH

Chimpanzee                    INHSFIDLPTPSNISAWWNFGSLLGACLILQITTGLFLAMH

Mouse                         INHSFIDLPAPSNISSWWNFGSLLGVCLMVQIITGLFLAMH

Rat                           INHSFIDLPAPSNISSWWNFGSLLGVCLMVQILTGLFLAMH

Pig                           INNAFIDLPAPSNISSWWNFGSLLGICLILQILTGLFLAMH

Bovine                        VNNAFIDLPAPSNISSWWNFGSLLGICLILQILTGLFLAMH

Rabbit                        VNHSLIDLPAPSNISAWWNFGSLLGLCLMIQIFTGLFLAMH

Goat                          VNNAFIDLPTPSNISSWWNFGSLLGICLILQILTGLFLAMH

Sheep                         VNNAFIDLPAPSNISSWWNFGSLLGICLILQILTGLFLAMH

Cat                           INHSFIDLPAPSNISAWWNFGSLLGVCLTLQILTGLFLAMH

Horse                         INHSFIDLPAPSNISSWWNFGSLLGICLILQILTGLFLAMH

Chicken                       INNSLIDLPAPSNISAWWNFGSLLAVCLMTQILTGLLLAMH

Xenopus laevis                INNSFIDLPTPSNISSLWNFGSLLGVCLIAQIITGLFLAMH

Zebrafish                     ANDALVDLPTPLNISAWWNFGSLLGLCLITQILTGLFLAMH

Caenorhabditis elegans        VNGMLVTLPSSKTLTLSWNFGSMLGMVLIFQILTGTFLAFY

Drosophila                    ANNALVDLPAPINISSWWNFGSLLGLCLIIQILTGLFLAMH

Slime mold                    IYEAGVRYPEPANISYLWNFGFFSLICLIIQLVSGILLAMH

Baker's yeast                 VNSYIIDSPQPSSINYWWNMGSLLGLCLVIQIVTGIFMAMH

Fission yeast                 ANNYMIDAPEPSNISYFWNFGSLLACVLVIQIVIGILLACF

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 – 380	Cytochrome b
Transmembrane	33 – 53	Helical
Helix	32 – 52

Literature citations
Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA.
Andreu A.L.; Hanna M.G.; Reichmann H.; Bruno C.; Penn A.S.; Tanji K.; Pallotti F.; Iwata S.; Bonilla E.; Lach B.; Morgan-Hughes J.; DiMauro S.;
N. Engl. J. Med. 341:1037-1044(1999)
Cited for: VARIANTS MM SER-34 AND 251-GLY--LEU-258 DEL;

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.