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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P31040: Variant p.Cys189Gly

Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial
Gene: SDHA
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Variant information Variant position: help 189 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 Cysteine (C) to Glycine (G) at position 189 (C189G, p.Cys189Gly). 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 medium size and polar (C) to glycine (G) 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 LS; decrease in succinate dehydrogenase activity. Any additional useful information about the variant.


Sequence information Variant position: help 189 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 664 The length of the canonical sequence.
Location on the sequence: help YQRAFGGQSLKFGKGGQAHR C CCVADRTGHSLLHTLYGRSL 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                         YQRAFGGQSLKFGKGGQAHRCCCVADRTGHSLLHTLYGRSL

Mouse                         YQRAFGGQSLKFGKGGQAHRCCCVADRTGHSLLHTLYGRSL

Rat                           YQRAFGGQSLKFGKGGQAHRCCCVADRTGHSLLHTLYGRSL

Pig                           YQRAFGGQSLKFGKGGQAHRCCCVADRTGHSLLHTLYGRSL

Bovine                        YQRAFGGQSLKFGKGGQAHRCCCVADRTGHSLLHTLYGRSL

Chicken                       YQRAFGGQSLQFGKGGQAHRCCCVADRTGHSLLHTLYGRSL

Xenopus tropicalis            YQRAFGGQSLKFGKGGQAHRCCCVADRTGHSLLHTLYGRSL

Zebrafish                     YQRAFGGQSLKFGKGGQAHRCCCVADRTGHSLLHTLYGRSL

Caenorhabditis elegans        YQRAFGGQSNDFGRGGQAHRTCCVADRTGHSLLHTLYGASL

Drosophila                    YQRAFGGQSLKFGKGGQAHRCCAVADRTGHSLLHTLYGQSL

Slime mold                    YQRAFGGQSKNFGKGGQATRCCAAADRTGHALLHTLYGQAV

Baker's yeast                 YQRAFGGQTKEYGKGAQAYRTCAVADRTGHALLHTLYGQAL

Fission yeast                 YQRAFGGQSLEYGKGGQAYRCAAVADRTGHSILHTLYGQSL

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 43 – 664 Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial
Modified residue 179 – 179 N6-acetyllysine; alternate
Modified residue 179 – 179 N6-succinyllysine; alternate
Modified residue 182 – 182 N6-acetyllysine
Alternative sequence 126 – 270 Missing. In isoform 3.



Literature citations
SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors.
Renkema G.H.; Wortmann S.B.; Smeets R.J.; Venselaar H.; Antoine M.; Visser G.; Ben-Omran T.; van den Heuvel L.P.; Timmers H.J.; Smeitink J.A.; Rodenburg R.J.;
Eur. J. Hum. Genet. 23:202-209(2015)
Cited for: VARIANT LS GLY-189; CHARACTERIZATION OF VARIANT LS GLY-189; FUNCTION; CATALYTIC ACTIVITY; PATHWAY;
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.