Variant position: 366 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 465 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 GNGSDVTVWQPAFPVQTTTA TTTTALRVKNKPLGPAGSENE
Mouse GNGSDVTMWQPAPPVQTTTA TTTTAFRIKNKPLGPAGSENE
Rat GNGSDVTMWQPAPPVQTTTA TTTTAFRVKNKPLGPAGSENE
Chicken GNGTDVNVWQPILPVQTTTA TTTTASRLKNT--GSETTNNE
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
25 – 429 GDNF family receptor alpha-1
362 – 369 Poly-Thr
347 – 347 N-linked (GlcNAc...) asparagine
Human GFRA1: cloning, mapping, genomic structure, and evaluation as a candidate gene for Hirschsprung disease susceptibility.
Angrist M.; Jing S.; Bolk S.; Bentley K.; Nallasamy S.; Halushka M.; Fox G.M.; Chakravarti A.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1); VARIANTS ASN-85 AND ALA-366;
Molecular analysis of congenital central hypoventilation syndrome.
Sasaki A.; Kanai M.; Kijima K.; Akaba K.; Hashimoto M.; Hasegawa H.; Otaki S.; Koizumi T.; Kusuda S.; Ogawa Y.; Tuchiya K.; Yamamoto W.; Nakamura T.; Hayasaka K.;
Hum. Genet. 114:22-26(2003)
Cited for: VARIANTS ALA-366 AND ARG-371;
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.