Variant position: 445 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 917 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 RRFHKTLRRLVPDSDVRFLL SESGSGKGAAMVTAVAYRLAE
Mouse RRFHKTLRRLVPDSDVRFLL SESGSGKGAAMVTAVAYRLAE
Rat RRFHKTLRRLVPDSDVRFLL SESGTGKGAAMVTAVAYRLAE
Bovine RRFHKTLRRLVPDSDVRFLL SESGTGKGAAMVTAVAYRLAE
Drosophila -------------------- ---------------------
Fission yeast -------------------- ---------------------
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
1 – 917 Hexokinase-1
16 – 458 Hexokinase 1
208 – 447 Hexokinase large subdomain 1
449 – 449 Glucose-6-phosphate 1
De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment.
Okur V.; Cho M.T.; van Wijk R.; van Oirschot B.; Picker J.; Coury S.A.; Grange D.; Manwaring L.; Krantz I.; Muraresku C.C.; Hulick P.J.; May H.; Pierce E.; Place E.; Bujakowska K.; Telegrafi A.; Douglas G.; Monaghan K.G.; Begtrup A.; Wilson A.; Retterer K.; Anyane-Yeboa K.; Chung W.K.;
Eur. J. Hum. Genet. 27:1081-1089(2019)
Cited for: INVOLVEMENT IN NEDVIBA; VARIANTS NEDVIBA GLU-414; GLU-418; LEU-445 AND MET-457; CHARACTERIZATION OF VARIANTS NEDVIBA GLU-418 AND LEU-445;
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.