Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O14521: Variant p.Asp92Tyr

Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial
Gene: SDHD
Feedback?
Variant information Variant position: help 92 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 Aspartate (D) to Tyrosine (Y) at position 92 (D92Y, p.Asp92Tyr). 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 acidic (D) to large size and aromatic (Y) 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 PPGL1. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 92 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 159 The length of the canonical sequence.
Location on the sequence: help VSVLLLGLLPAAYLNPCSAM D YSLAAALTLHGHWGLGQVVT 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                         VSVLLLG--LLPAAYLNPCS---AMDYSLAAALTLHGHWGLGQVVT

Mouse                         VSVLLLG--LIPAGYLNPCS---VVDYSLAAALTLHSHWGL

Rat                           VSVLLLG--LIPAGYLNPCS---VVDYSLAAALTLHSHWGI

Pig                           VSVLLLG--LLPAAYLNPCS---AMDYSLAAALTLHGHWGI

Bovine                        VSVLLLG--LIPAAYLNPCS---AMDYSLAATLTLHSHWGI

Sheep                         VSVLLLG--LIPAAYLNPCS---AMDYSLAATLTLHSHWGI

Chicken                       VSALLLG--LLPAAYLYPGP---AVDYSLAAALTLHGHWGL

Xenopus tropicalis            LSVALLG--LLPAAYLYPGA---AMDYSLAAALTLHGHWGL

Caenorhabditis elegans        WAVGMLP--ILPASYFIHGP---VMDAVLTVALTLHIHWGI

Drosophila                    VSAGLLA--VIPAAFIAPSQ---VLDALMAISVVIHTHWGV

Baker's yeast                 FALSVVP--LATTAMLTTGPLSTAADSFFSVMLLGYCYMEF

Fission yeast                 IAIAMVPQVMIPLFTGTSHP---LMDAALACTLITHAHLGF
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 57 – 159 Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial
Transmembrane 91 – 111 Helical
Binding site 102 – 102 axial binding residue
Alternative sequence 56 – 158 HSGSKAASLHWTSERVVSVLLLGLLPAAYLNPCSAMDYSLAAALTLHGHWGLGQVVTDYVHGDALQKAAKAGLLALSALTFAGLCYFNYHDVGICKAVAMLWK -> HWALDKLLLTMFMGMPCRKLPRQGFWHFQ. In isoform 3.
Helix 89 – 114



Literature citations
Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.
Baysal B.E.; Ferrell R.E.; Willett-Brozick J.E.; Lawrence E.C.; Myssiorek D.; Bosch A.; van der Mey A.; Taschner P.E.M.; Rubinstein W.S.; Myers E.N.; Richard C.W. III; Cornelisse C.J.; Devilee P.; Devlin B.;
Science 287:848-851(2000)
Cited for: VARIANTS PPGL1 LEU-81; TYR-92 AND LEU-102; Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene.
Taschner P.E.M.; Jansen J.C.; Baysal B.E.; Bosch A.; Rosenberg E.H.; Broecker-Vriends A.H.J.T.; van Der Mey A.G.L.; van Ommen G.-J.B.; Cornelisse C.J.; Devilee P.;
Genes Chromosomes Cancer 31:274-281(2001)
Cited for: VARIANTS PPGL1 TYR-92 AND PRO-139; Germ-line mutations in nonsyndromic pheochromocytoma.
Neumann H.P.H.; Bausch B.; McWhinney S.R.; Bender B.U.; Gimm O.; Franke G.; Schipper J.; Klisch J.; Altehoefer C.; Zerres K.; Januszewicz A.; Smith W.M.; Munk R.; Manz T.; Glaesker S.; Apel T.W.; Treier M.; Reineke M.; Walz M.K.; Hoang-Vu C.; Brauckhoff M.; Klein-Franke A.; Klose P.; Schmidt H.; Maier-Woelfle M.; Peczkowska M.; Szmigielski C.; Eng C.;
N. Engl. J. Med. 346:1459-1466(2002)
Cited for: VARIANT PPGL1 TYR-92; Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.
Neumann H.P.H.; Pawlu C.; Peczkowska M.; Bausch B.; McWhinney S.R.; Muresan M.; Buchta M.; Franke G.; Klisch J.; Bley T.A.; Hoegerle S.; Boedeker C.C.; Opocher G.; Schipper J.; Januszewicz A.; Eng C.;
JAMA 292:943-951(2004)
Cited for: VARIANTS PPGL1 LEU-81; TYR-92; CYS-114 AND VAL-148;
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.