Variant position: 319 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 505 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 DDLNATHQHCVLAGSQPRFS STHRVAECSTGTLDYILQRCQ
Mouse DDLNATHQHCVLAGSQPRFS STHRVAECSTGTLDYILERCQ
Rat DDLNATHQHCVLAGSQPRFS STHRVAECSTGTLDYILQRCQ
Xenopus laevis DDLNKTHQHCVIAGCQPRFS STHRVAESSTGTLQYIKSQCN
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 – 505 Alpha-ketoglutarate-dependent dioxygenase FTO
32 – 327 Fe2OG dioxygenase domain
307 – 307 Iron; catalytic
320 – 320 Alpha-ketoglutarate
322 – 322 Alpha-ketoglutarate
1 – 445 Missing. In isoform 3.
1 – 399 Missing. In isoform 4.
1 – 378 Missing. In isoform 2.
316 – 322
Identification of a pathogenic FTO mutation by next-generation sequencing in a newborn with growth retardation and developmental delay.
Daoud H.; Zhang D.; McMurray F.; Yu A.; Luco S.M.; Vanstone J.; Jarinova O.; Carson N.; Wickens J.; Shishodia S.; Choi H.; McDonough M.A.; Schofield C.J.; Harper M.E.; Dyment D.A.; Armour C.M.;
J. Med. Genet. 53:200-207(2016)
Cited for: VARIANT GDFD PHE-319; CHARACTERIZATION OF VARIANT GDFD PHE-319;
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.