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UniProtKB/Swiss-Prot O14521: Variant p.Asp92Gly

Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial
Gene: SDHD
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Variant information Variant position: help 92
Type of variant: help LP/P [Disclaimer]
Residue change: help From Aspartate (D) to Glycine (G) at position 92 (D92G, p.Asp92Gly).
Physico-chemical properties: help Change from medium size and acidic (D) to glycine (G)
BLOSUM score: help -1
Variant description: help In MC2DN3; results in highly reduced protein expression; results in impaired cellular respiration.
Other resources: help


Sequence information Variant position: help 92
Protein sequence length: help 159
Location on the sequence: help VSVLLLGLLPAAYLNPCSAM D YSLAAALTLHGHWGLGQVVT
Residue conservation: help
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
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
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;
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.