Variant position: 164 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 WPQGTFASQVT-LEGDKLKVE REIDGGLETLRLKLPAVVTAD
Mouse WPQGTFASQVT-LEGDKVKVE REIDGGLETLRLKLPAVVTA
Rat WPQGTFASQVT-LEGDKVKVE REIDGGLETIRLKLPAVVTA
Pig WPQGTFASQVT-LEGDKVKVE REIDGGLETLRLKLPAVVTA
Bovine WPQGTFASQVT-LEGDKIKVE REIDGGLETLRLKLPAVVTA
Slime mold WPQATFASKVD-IKDDSVHVT REIDGGLETLSMKLPAIISC
Baker's yeast WPQATNAAKVEFLDNGRVQVT REIDDGEEVIEASLPMVITT
Fission yeast WPQFTSASKVR-IEGDKVIVT REIDGGEETLSSTLPAIITT
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
165 – 165 E -> AQ. Drastically increases interprotein electron transfer rates.
159 – 166
Mutations and polymorphisms of the gene encoding the beta-subunit of the electron transfer flavoprotein in three patients with glutaric acidemia type II.
Colombo I.; Finocchiaro G.; Garavaglia B.; Garbuglio N.; Yamaguchi S.; Frerman F.; Berra B.; Didonato S.;
Hum. Mol. Genet. 3:429-435(1994)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 147-199; VARIANT GA2B GLN-164; CHARACTERIZATION OF VARIANT GA2B GLN-164; 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.