Variant position: 128 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 255 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 LAKLAEKEKVDLVLLGKQAI DDDCNQTGQMTAGFLDWPQGT
Mouse LAKLAEKEKVDLLFLGKQAI DDDCNQTGQMTAGLLDWPQGT
Rat LAKLAEKEKVDLLFLGKQAI DDDCNQTGQMTAGLLDWPQGT
Pig LAKLAQKEKVDLVLLGKQAI DDDCNQTGQMTAGFLDWPQGT
Bovine LAKLAEKEKVDLVLLGKQAI DDDCNQTGQMTAGFLDWPQGT
Slime mold LKELVDKEKPNLIILGKQAI DDDCNQTAQMLAGLLNWPQAT
Baker's yeast LKAVVEKKGSNLVLMGKQAI DDDCNNTGQMLAGLLNWPQAT
Fission yeast LKATVEKEKSNLVLLGKQAI DDDAHQTGGMLAAMLGWPQFT
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
2 – 255 Electron transfer flavoprotein subunit beta
123 – 134 AMP
127 – 129
Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.
Olsen R.K.J.; Andresen B.S.; Christensen E.; Bross P.; Skovby F.; Gregersen N.;
Hum. Mutat. 22:12-23(2003)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT GA2B ASN-128; CHARACTERIZATION OF VARIANT GA2B ASN-128; FUNCTION;
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.