Variant position: 92 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 159 The length of the canonical sequence.
Location on the sequence:
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 VSVLLLG--LLPAAYLNPCSA---M DYSLAAALTLHGHWGLGQVVT
Mouse VSVLLLG--LIPAGYLNPCSV---V DYSLAAALTLHSHWGL
Rat VSVLLLG--LIPAGYLNPCSV---V DYSLAAALTLHSHWGI
Pig VSVLLLG--LLPAAYLNPCSA---M DYSLAAALTLHGHWGI
Bovine VSVLLLG--LIPAAYLNPCSA---M DYSLAATLTLHSHWGI
Sheep VSVLLLG--LIPAAYLNPCSA---M DYSLAATLTLHSHWGI
Chicken VSALLLG--LLPAAYLYPGPA---V DYSLAAALTLHGHWGL
Xenopus tropicalis LSVALLG--LLPAAYLYPGAA---M DYSLAAALTLHGHWGL
Caenorhabditis elegans WAVGMLP--ILPASYFIHGPV---M DAVLTVALTLHIHWGI
Drosophila VSAGLLA--VIPAAFIAPSQV---L DALMAISVVIHTHWGV
Baker's yeast FALSVVP--LATTAMLTTGPLSTAA DSFFSVMLLGYCYMEF
Fission yeast IAIAMVPQVMIPLFTGTSHPL---M DAALACTLITHAHLGF
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
57 – 159 Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial
91 – 111 Helical
102 – 102 Iron (heme axial ligand); shared with SDHC
56 – 158 HSGSKAASLHWTSERVVSVLLLGLLPAAYLNPCSAMDYSLAAALTLHGHWGLGQVVTDYVHGDALQKAAKAGLLALSALTFAGLCYFNYHDVGICKAVAMLWK -> HWALDKLLLTMFMGMPCRKLPRQGFWHFQ. In isoform 3.
A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.
Alston C.L.; Ceccatelli Berti C.; Blakely E.L.; Olahova M.; He L.; McMahon C.J.; Olpin S.E.; Hargreaves I.P.; Nolli C.; McFarland R.; Goffrini P.; O'Sullivan M.J.; Taylor R.W.;
Hum. Genet. 134:869-879(2015)
Cited for: VARIANT MC2DN3 GLY-92; INVOLVEMENT IN MC2DN3; CHARACTERIZATION OF VARIANT MC2DN3 GLY-92;
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.