Variant position: 58 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 373 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 ETDRIISQCGRLIAGGSLSS TPMSTPCSSVPPSPSFSAPSP
Mouse ETDRIISQCGRLIAGGSLSS TPMSTPCSSVPPSPSFSAPSP
Rat ETDRIISQCGRLIAGGSLSS TPMSTPCSSVPPSPSFSAPSP
Bovine ETDRIISQCGRLIAGGSLSS TPMSTPCSSVPPSPSFSAPSP
Chicken ETDRIISQCGRLIAGGSLSS TPMSTPCSSVPPSPSFSAPSP
Xenopus tropicalis ETDRIISQCGRLIAGGSLSS TPMSTPCSSVPPSPSFSAPSP
Zebrafish EPDRSISQCSRLIAGGSLSS TPMSTPCSSVPPSPSFSAPSP
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 – 373 Transcription factor Maf
Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a Down syndrome-like facies.
Niceta M.; Stellacci E.; Gripp K.W.; Zampino G.; Kousi M.; Anselmi M.; Traversa A.; Ciolfi A.; Stabley D.; Bruselles A.; Caputo V.; Cecchetti S.; Prudente S.; Fiorenza M.T.; Boitani C.; Philip N.; Niyazov D.; Leoni C.; Nakane T.; Keppler-Noreuil K.; Braddock S.R.; Gillessen-Kaesbach G.; Palleschi A.; Campeau P.M.; Lee B.H.; Pouponnot C.; Stella L.; Bocchinfuso G.; Katsanis N.; Sol-Church K.; Tartaglia M.;
Am. J. Hum. Genet. 96:816-825(2015)
Cited for: INVOLVEMENT IN AYGRP; VARIANTS AYGRP LEU-54; ALA-58; ILE-58; HIS-59; LEU-59; ARG-62 AND ARG-69;
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.