UniProtKB/Swiss-Prot P31930: Variant p.Asn301Ser

Cytochrome b-c1 complex subunit 1, mitochondrial
Gene: UQCRC1
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Variant information Variant position:

301 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 Asparagine (N) to Serine (S) at position 301 (N301S, p.Asn301Ser). 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 (N) 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
Other resources:

Links to websites of interest for the variant.

Variant rs144710790 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

ALPFAHVAIAVEGPGWASPD N VALQVANAIIGHYDCTYGGG 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                         ALPFAHVAIAVEGPGWASPDNVALQVANAIIGHYDCTYGGG

Mouse                         ALPLAHVAIAVEGPGWANPDNVTLQVANAIIGHYDCTYGGG

Rat                           ALPLAHVAIAVEGPGWANPDNVALQVANAIIGHYDCTYGGG

Bovine                        GLPLAHVAIAVEGPGWAHPDNVALQVANAIIGHYDCTYGGG

Baker's yeast                 TLPKAWISLAVEGEPVNSPNYFVAKLAAQIFGSYNAFEPAS

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	35 – 480	Cytochrome b-c1 complex subunit 1, mitochondrial
Helix	300 – 311

Literature citations
Complete coding sequence, intron/exon organization, and chromosomal location of the gene for the core I protein of human ubiquinol-cytochrome c reductase.
Hoffman G.G.; Lee S.; Christiano A.M.; Chung-Honet L.C.; Cheng W.; Katchman S.; Uitto J.; Greenspan D.S.;
J. Biol. Chem. 268:21113-21119(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT SER-301; A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency.
Valnot I.; Kassis J.; Chretien D.; de Lonlay P.; Parfait B.; Munnich A.; Kachaner J.; Rustin P.; Roetig A.;
Hum. Genet. 104:460-466(1999)
Cited for: VARIANT SER-301;

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.