Variant position: 93 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 211 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 KRLKRSPDKQMAVLPRRERN RQAAAANPENSRGKGRRGQR--------------G
Mouse KRLKRSPDKQAAALPRRERN RQAAAASPENSRGKGRRGQR-
Rat KRLKRSPDKQAAALPRRERN RQAAAASPENSRGKGRRGQR-
Xenopus laevis KRLKRSSNKQPPS--RRDRG RQSLAANTQISSKKTVKDRK-
Zebrafish GRLRRSSDVEPQM--KRDRV RQKAAANTEKSGGRGRGERKR
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
78 – 211 Glial cell line-derived neurotrophic factor
Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL.
Woodward E.R.; Eng C.; McMahon R.; Voutilainen R.; Affara N.A.; Ponder B.A.; Maher E.R.;
Hum. Mol. Genet. 6:1051-1056(1997)
Cited for: POSSIBLE INVOLVEMENT IN PCC; VARIANT PCC TRP-93;
Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient.
Angrist M.; Bolk S.; Halushka M.; Lapchak P.A.; Chakravarti A.;
Nat. Genet. 14:341-344(1996)
Cited for: VARIANT HSCR3 TRP-93;
Mutations of the RET-GDNF signaling pathway in Ondine's curse.
Amiel J.; Salomon R.; Attie T.; Pelet A.; Trang H.; Mokhtari M.; Gaultier C.; Munnich A.; Lyonnet S.;
Am. J. Hum. Genet. 62:715-717(1998)
Cited for: VARIANT CCHS TRP-93;
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