UniProtKB/Swiss-Prot Q07021: Variant p.Cys186Ser

Complement component 1 Q subcomponent-binding protein, mitochondrial
Gene: C1QBP
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Variant information Variant position:

186 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 Serine (S) at position 186 (C186S, p.Cys186Ser). 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 small size and polar (S) 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 COXPD33; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs748497469 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

PNFVVEVIKNDDGKKALVLD C HYPEDEVGQEDEAESDIFSI 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                         PNFVVEVIKNDDGKKALVLDCHYPEDEVGQEDEAESDIFSI

Mouse                         PNFVVEVTK-TDGKKTLVLDCHYPEDEIGHEDEAESDIFSI

Rat                           PNFVVEVTK-TDGKKTLVLDCHYPEDEIGHEDEAESDIFSI

Bovine                        PNFVVEVTK-DGSSKALVLDCHYPEDEIGQEDD-QSDIFSI

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	74 – 282	Complement component 1 Q subcomponent-binding protein, mitochondrial
Region	168 – 213	Interaction with MAVS
Modified residue	188 – 188	Phosphotyrosine
Modified residue	201 – 201	Phosphoserine
Modified residue	205 – 205	Phosphoserine
Beta strand	180 – 187

Literature citations
Biallelic C1QBP mutations cause severe neonatal-, childhood-, or later-onset cardiomyopathy associated with combined respiratory-chain deficiencies.
Feichtinger R.G.; Olahova M.; Kishita Y.; Garone C.; Kremer L.S.; Yagi M.; Uchiumi T.; Jourdain A.A.; Thompson K.; D'Souza A.R.; Kopajtich R.; Alston C.L.; Koch J.; Sperl W.; Mastantuono E.; Strom T.M.; Wortmann S.B.; Meitinger T.; Pierre G.; Chinnery P.F.; Chrzanowska-Lightowlers Z.M.; Lightowlers R.N.; DiMauro S.; Calvo S.E.; Mootha V.K.; Moggio M.; Sciacco M.; Comi G.P.; Ronchi D.; Murayama K.; Ohtake A.; Rebelo-Guiomar P.; Kohda M.; Kang D.; Mayr J.A.; Taylor R.W.; Okazaki Y.; Minczuk M.; Prokisch H.;
Am. J. Hum. Genet. 101:525-538(2017)
Cited for: FUNCTION; INVOLVEMENT IN COXPD33; VARIANTS COXPD33 SER-186; TYR-188 DEL; LEU-204; TRP-247; PHE-275 AND PRO-275;

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.