Variant position: 555 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 664 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 GCGKISKLYGDL-KHLKTFDR GMVWNTDLVETLELQNLMLCA
Mouse GCEKISQLYGDL-KHLKTFDR GMVWNTDLVETLELQNLMLC
Rat GCEKVSQLYGDL-QHLKTFDR GMVWNTDLVETLELQNLMLC
Pig GCEKILRLYGDL-QHLKTFDR GMVWNTDLVETLELQNLMLC
Bovine GCEKISSLYGDL-RHLKTFDR GMVWNTDLVETLELQNLMLC
Chicken GCEKLSQIYCDL-AHLKTFDR GIVWNTDLVETLELQNLMLC
Xenopus tropicalis GCEKLSAINSTM-DDIKTFDR GIVWNTDLVETLELQNLMLC
Zebrafish GCVKMESVYKSM-DDIKTFDR GIVWNTDLVETLELQNLMLN
Caenorhabditis elegans GVKVLSKLYKDQ-AHLNVADK GLVWNSDLIETLELQNLLIN
Drosophila GVNKMKEIYKQF-KDIKVVDR SLIWNSDLVETLELQNLLAN
Slime mold GVELIDKCARSLINDLKTTDR TMIWNTDLIESLELQNLMTQ
Baker's yeast GVRNITAVEKTF-DDVKTTDR SMIWNSDLVETLELQNLLTC
Fission yeast GVKNIARVDGTY-KDIGIRDR GLIWNTDLVEALELRNLLTC
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
43 – 664 Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial
538 – 538 N6-acetyllysine; alternate
538 – 538 N6-succinyllysine; alternate
541 – 541 N6-acetyllysine
547 – 547 N6-acetyllysine; alternate
547 – 547 N6-succinyllysine; alternate
550 – 550 N6-acetyllysine
Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II.
Van Coster R.; Seneca S.; Smet J.; Van Hecke R.; Gerlo E.; Devreese B.; Van Beeumen J.; Leroy J.G.; De Meirleir L.; Lissens W.;
Am. J. Med. Genet. A 120:13-18(2003)
Cited for: VARIANT MT-C2D GLU-555;
Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase.
Levitas A.; Muhammad E.; Harel G.; Saada A.; Caspi V.C.; Manor E.; Beck J.C.; Sheffield V.; Parvari R.;
Eur. J. Hum. Genet. 18:1160-1165(2010)
Cited for: VARIANT CMD1GG GLU-555;
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.