Sequence information
Variant position: 96 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 175 The length of the canonical sequence.
Location on the sequence:
RALFQDIKKPAEDEWGKTPD
A MKAAMALEKKLNQALLDLHA
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 RALFQDIKKPAEDEWGKTPDA MKAAMALEKKLNQALLDLHA
Bovine RALFLDVQKPSQDEWGKTQDA MEAALLVEKNLNQALLDLHG
Rabbit RALFQDVQKPSQDEWGKTLNA MEAALALEKNLNQALLDLHA
Cat RALFLDVQKPSQDEWGKTLDA MEAALLLEKNLNQGLLDLHA
Horse RALFQDLQKPSQDEWGTTLDA MKAAIVLEKSLNQALLDLHA
Xenopus laevis RVVLQDVKKPDDDEWGNGTKA MEVALNLEKSINQAVLDLHK
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
Chain
2 – 175
Ferritin light chain
Domain
7 – 156
Ferritin-like diiron
Helix
93 – 120
Literature citations
Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement.
Maciel P.; Cruz V.T.; Constante M.; Iniesta I.; Costa M.C.; Gallati S.; Sousa N.; Sequeiros J.; Coutinho P.; Santos M.M.;
Neurology 65:603-605(2005)
Cited for: VARIANT NBIA3 THR-96;
Disclaimer:
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.