UniProtKB/Swiss-Prot Q96IL0: Variant p.Phe118Ser

Cytochrome c oxidase assembly factor 8
Gene: COA8
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Variant information Variant position:

118 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 Phenylalanine (F) to Serine (S) at position 118 (F118S, p.Phe118Ser). 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
Variant description:

In MC4DN17; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs587777786 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

KLRQETQEWNQQFWANQNLT F SKEKEEFIHSRLKTKGLGLR 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                         KLRQETQEWNQQFWANQNLTFSKEKEEFIHSRLKTKGLGLR

Mouse                         ELRQETQEWNQQFWAKQNLSFNKEKEEFIYSRLQAKGAGLR

Rat                           ELRQETQEWNQQFWAKQNLSFNKEKEEFIYSRLQAKGSGPR

Bovine                        ELRQETQEWNQQFWADQNLTFHKEKEEFVRSRLKAKGLDLR

Caenorhabditis elegans        LAREELNQWNSDFWAEHNQLFDRQKSDFVERK--------Q

Drosophila                    LKRIEVEAWNTDFWTKHNKRFYEEKEDFIR---------LH

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	40 – 206	Cytochrome c oxidase assembly factor 8

Literature citations
Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.
Melchionda L.; Haack T.B.; Hardy S.; Abbink T.E.; Fernandez-Vizarra E.; Lamantea E.; Marchet S.; Morandi L.; Moggio M.; Carrozzo R.; Torraco A.; Diodato D.; Strom T.M.; Meitinger T.; Tekturk P.; Yapici Z.; Al-Murshedi F.; Stevens R.; Rodenburg R.J.; Lamperti C.; Ardissone A.; Moroni I.; Uziel G.; Prokisch H.; Taylor R.W.; Bertini E.; van der Knaap M.S.; Ghezzi D.; Zeviani M.;
Am. J. Hum. Genet. 95:315-325(2014)
Cited for: VARIANTS MC4DN17 79-ARG--ASN-206 DEL; SER-118 AND GLU-124 DEL; CHARACTERIZATION OF VARIANT MC4DN17 79-ARG--ASN-206 DEL; INVOLVEMENT IN MC4DN17; SUBCELLULAR LOCATION; CLEAVAGE; FUNCTION; INDUCTION BY OXIDATIVE STRESS; TISSUE SPECIFICITY;

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.