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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P53701: Variant p.Arg217Cys

Holocytochrome c-type synthase
Gene: HCCS
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Variant information Variant position: help 217 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Arginine (R) to Cysteine (C) at position 217 (R217C, p.Arg217Cys). 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: help Change from large size and basic (R) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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: help In LSDMCA1; loss of function; no effect on localization to mitochondrion. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 217 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 268 The length of the canonical sequence.
Location on the sequence: help RIRSWMGYELPFDRHDWIIN R CGTEVRYVIDYYDGGEVNKD 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         R---------IRSWMGYELPFDRHDWIINRCGT----------EVRYVIDYYDGGEVNKD

Mouse                         R---------IRSWMGYELPFDRHDWIINRCGT--------

Bovine                        R---------IRSWMGYELPFDRHDWIINRCGT--------

Chicken                       R---------IRSWMGYELPFDRHDWIVDRCGK--------

Caenorhabditis elegans        R--------FRNLFLGYDLPFDRHDWIVDRCGT--------

Slime mold                    K--------FLNTFLGYKLPFDRHDWIVDRNGK--------

Baker's yeast                 RWMHLCGLLFPSHF-SQELPFDRHDWIVLRGERKAEQQPPT

Fission yeast                 LWYMMLGRINPNRWGSGEGPFDRHDWYVQRKDN--------
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 2 – 268 Holocytochrome c-type synthase
Mutagenesis 211 – 211 H -> AGCY. No effect on holocytochrome C synthase activity.



Literature citations
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.
Wimplinger I.; Morleo M.; Rosenberger G.; Iaconis D.; Orth U.; Meinecke P.; Lerer I.; Ballabio A.; Gal A.; Franco B.; Kutsche K.;
Am. J. Hum. Genet. 79:878-889(2006)
Cited for: VARIANTS LSDMCA1 197-ARG--SER-268 DEL AND CYS-217; CHARACTERIZATION OF VARIANTS LSDMCA1 197-ARG--SER-268 DEL AND CYS-217; SUBCELLULAR LOCATION;
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.