Variant position: 171 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 543 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 DTEVLQRLSCMAIRGDMFLV ANLGTKEPCHSSDPRCPKDGR
Mouse DTEVLQRLSCMAIKGGMFLV ANLGTKQPCLSSDPGCPQDGR
Rat DTEVLQRLSCMAIKGKMFLV ANLGTKQPCLGSDPGCPQDGR
Bovine DTEVLQRLSCMAMKGEMFLV ANLGTKQPCHSSDPGCPSDGR
Drosophila SISASPSTPTTTLAPPTTAA AGALAGSPTSSSPSSSAASAA
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
42 – 543 Biotinidase
72 – 351 CN hydrolase
Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.
Swango K.L.; Demirkol M.; Huener G.; Pronicka E.; Sykut-Cegielska J.; Schulze A.; Mayatepek E.; Wolf B.;
Hum. Genet. 102:571-575(1998)
Cited for: VARIANTS BTD DEFICIENCY VAL-128; THR-171; TYR-228; ARG-323; HIS-444; ASP-451; HIS-456; MET-532 AND CYS-538;
Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States.
Norrgard K.J.; Pomponio R.J.; Swango K.L.; Hymes J.; Reynolds T.; Buck G.A.; Wolf B.;
Hum. Mutat. 11:410-410(1998)
Cited for: VARIANTS BTD DEFICIENCY THR-171 AND HIS-444;
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.