UniProtKB/Swiss-Prot P00414: Variant p.Phe35Ser

Cytochrome c oxidase subunit 3
Gene: MT-CO3
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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 Phenylalanine (F) to Serine (S) at position 35 (F35S, p.Phe35Ser). 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 large size and aromatic (F) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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:

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

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

PWPLTGALSALLMTSGLAMW F HFHSMTLLMLGLLTNTLTMY 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                         PWPLTGALSALLMTSGLAMWFH--FHSMTLLMLGLLTNTLTMY

Gorilla                       PWPLTGALSALLMTSGLAMWFH--FHSTTLLMLGLLTNMLT

                              PWPLTGALSALLMTSGLIMWFH--YNSMALLTLGFTTNLLT

Chimpanzee                    PWPLTGALSALLMTSGLAMWFH--FYSTTLLTLGLLTNTLT

Mouse                         PWPLTGAFSALLLTSGLVMWFH--YNSITLLTLGLLTNILT

Rat                           PWPLTGALSALLLTSGLVMWFH--YNSTILLSLGLLTNILT

Pig                           PWPLTGALSALLMTSGLTMWFH--FNSMLLLSLGLLTNTLT

Bovine                        PWPLTGALSALLMTSGLTMWFH--FNSMTLLMIGLTTNMLT

Rabbit                        PWPLTGALSALLMTSGLAMWFH--FNSPSLLLIGLVTNTLT

Sheep                         PWPLTGALSALLMTSGLIMWFH--FNSTALLTLGLTTNMLT

Cat                           PWPLTGALSALLMTSGLAMWFH--YNLTLLLTLGMTTNLLT

Horse                         PWPLTGALSALLMTSGLAMWFH--FNSTLLLAMGLLTNILT

Chicken                       PWPIFGAAAALLTTSGLIMWFH--YSSTTLLTMGLLSMLLV

Xenopus laevis                PWPLTGAVAALLLTSGLAMWFH--FGSMILLTLGLITMVLT

Zebrafish                     PWPLTGAVAALLMSSGLAIWFH--LHSMTLIVLGMILLILT

Caenorhabditis elegans        SYAYNLFFASAGMLSSLVMFFK--FGLYELFIFTLFSVLFI

Drosophila                    PWPLTGAIGAMTTVSGMVKWFH--QYDISLFVLGNIITILT

Slime mold                    VAPLAVTLPLGFF----VLNYFGVISSKLGLLIALSSFIGG

Baker's yeast                 PWPIVVSFALLSLALSTALTMHGYIGNMNMVYLALFVLLTS

Fission yeast                 PWPFFLSVVLFFNCLAATLYLHGYKHSSVFFGISFLGLLAT

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 – 261	Cytochrome c oxidase subunit 3
Topological domain	35 – 40	Mitochondrial intermembrane

Literature citations
Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome.
Rieder M.J.; Taylor S.L.; Tobe V.O.; Nickerson D.A.;
Nucleic Acids Res. 26:967-973(1998)
Cited for: VARIANTS ARG-3 AND SER-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.