Variant position: 99 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 370 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 GCGQFSAVPLNLIGLKAGR-------C ADYVVTGAWSAKAAEEAKKFG
Mouse GSGQFSAVPLNLIGLKAGR-------S ADYVVTGAWSAKAA
Rabbit GCGQFSAVPLNLIGLKPGR-------C ADYVVTGAWSAKAA
Caenorhabditis elegans GTGQFAAIPLNLKGDHEH--------- ADYIVTGAWSSKAA
Drosophila GTGQFAAVALNLIGKTGT--------- ADYVITGSWSAKAA
Slime mold ASSLFAGIPMNLCENGVED-------I VDFIVTGSWSKQAS
Baker's yeast GTTGFSSVATNLAAAYVGKHG--KIAP AGYLVTGSWSQKSF
Fission yeast GTEQFAACLYNVYAHHALKNGNAKSLV ANYIITGAWSKKAY
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.
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.
Acuna-Hidalgo R.; Schanze D.; Kariminejad A.; Nordgren A.; Kariminejad M.H.; Conner P.; Grigelioniene G.; Nilsson D.; Nordenskjold M.; Wedell A.; Freyer C.; Wredenberg A.; Wieczorek D.; Gillessen-Kaesbach G.; Kayserili H.; Elcioglu N.; Ghaderi-Sohi S.; Goodarzi P.; Setayesh H.; van de Vorst M.; Steehouwer M.; Pfundt R.; Krabichler B.; Curry C.; MacKenzie M.G.; Boycott K.M.; Gilissen C.; Janecke A.R.; Hoischen A.; Zenker M.;
Am. J. Hum. Genet. 95:285-293(2014)
Cited for: INVOLVEMENT IN NLS2; VARIANTS NLS2 VAL-99 AND LEU-179;
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.