UniProtKB/Swiss-Prot P00156: Variant p.Ser35Pro

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

35 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 Serine (S) to Proline (P) at position 35 (S35P, p.Ser35Pro). 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 polar (S) to medium size and hydrophobic (P) 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
Variant description:

In exercice intolerance; with cardiomyopathy and septo-optic dysplasia. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs207460004 [ dbSNP | Ensembl ]

Sequence information Variant position:

35 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:

NHSFIDLPTPSNISAWWNFG S LLGACLILQITTGLFLAMHY 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                         NHSFIDLPTPSNISAWWNFGSLLGACLILQITTGLFLAMHY

Gorilla                       NHSFIDLPTPSNISTWWNFGSLLGACLILQITTGLFLAMHY

                              NNSFIDLPAPSNISAWWNFGSLLGVCLILQILTGLFLAMHY

Rhesus macaque                NRSFIDLPAPPNLSMWWNFGSLLAACLILQIITGLLLAMHY

Chimpanzee                    NHSFIDLPTPSNISAWWNFGSLLGACLILQITTGLFLAMHY

Mouse                         NHSFIDLPAPSNISSWWNFGSLLGVCLMVQIITGLFLAMHY

Rat                           NHSFIDLPAPSNISSWWNFGSLLGVCLMVQILTGLFLAMHY

Pig                           NNAFIDLPAPSNISSWWNFGSLLGICLILQILTGLFLAMHY

Bovine                        NNAFIDLPAPSNISSWWNFGSLLGICLILQILTGLFLAMHY

Rabbit                        NHSLIDLPAPSNISAWWNFGSLLGLCLMIQIFTGLFLAMHY

Goat                          NNAFIDLPTPSNISSWWNFGSLLGICLILQILTGLFLAMHY

Sheep                         NNAFIDLPAPSNISSWWNFGSLLGICLILQILTGLFLAMHY

Cat                           NHSFIDLPAPSNISAWWNFGSLLGVCLTLQILTGLFLAMHY

Horse                         NHSFIDLPAPSNISSWWNFGSLLGICLILQILTGLFLAMHY

Chicken                       NNSLIDLPAPSNISAWWNFGSLLAVCLMTQILTGLLLAMHY

Xenopus laevis                NNSFIDLPTPSNISSLWNFGSLLGVCLIAQIITGLFLAMHY

Zebrafish                     NDALVDLPTPLNISAWWNFGSLLGLCLITQILTGLFLAMHY

Caenorhabditis elegans        NGMLVTLPSSKTLTLSWNFGSMLGMVLIFQILTGTFLAFYY

Drosophila                    NNALVDLPAPINISSWWNFGSLLGLCLIIQILTGLFLAMHY

Slime mold                    YEAGVRYPEPANISYLWNFGFFSLICLIIQLVSGILLAMHY

Baker's yeast                 NSYIIDSPQPSSINYWWNMGSLLGLCLVIQIVTGIFMAMHY

Fission yeast                 NNYMIDAPEPSNISYFWNFGSLLACVLVIQIVIGILLACFY

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
Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation.
Schuelke M.; Krude H.; Finckh B.; Mayatepek E.; Janssen A.; Schmelz M.; Trefz F.; Trijbels F.; Smeitink J.;
Ann. Neurol. 51:388-392(2002)
Cited for: VARIANT EXERCICE INTOLERANCE PRO-35;

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.