Variant position: 105 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 821 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 TVLIG----EYLQIKGATPRDSGL YACTASRTVD-------------SETWYFMVNVT
Mouse TVLIG----EYLQIKGATPRDSGL YACTAARTVD-------
Chicken TVIIG----EYLQIKDASPRDSGL YACTAIRTLD-------
Xenopus laevis TLIVR----TYLQIKESTTRDSGL YACSVLK----------
Zebrafish TLVAR----DWLQISDATPKDSGL YSCSATGLRD-------
Drosophila RLITRMDEPQVLRLGNVLMEDGGW YICIAENQVGRTVAASY
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
22 – 821 Fibroblast growth factor receptor 2
22 – 377 Extracellular
25 – 125 Ig-like C2-type 1
123 – 123 N-linked (GlcNAc...)
62 – 107
37 – 152 EPPTKYQISQPEVYVAAPGESLEVRCLLKDAAVISWTKDGVHLGPNNRTVLIGEYLQIKGATPRDSGLYACTASRTVDSETWYFMVNVTDAISSGDDEDDTDGAEDFVSENSNNKR -> G. In isoform 20.
37 – 125 Missing. In isoform 4, isoform 21 and isoform 22.
Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus.
Pulleyn L.J.; Reardon W.; Wilkes D.; Rutland P.; Jones B.M.; Hayward R.; Hall C.M.; Brueton L.; Chun N.; Lammer E.; Malcolm S.; Winter R.M.;
Eur. J. Hum. Genet. 4:283-291(1996)
Cited for: VARIANTS CS CYS-105; GLU-338; CYS-351 AND ARG-384;
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
Kan S.-H.; Elanko N.; Johnson D.; Cornejo-Roldan L.R.; Cook J.; Reich E.W.; Tomkins S.; Verloes A.; Twigg S.R.F.; Rannan-Eliya S.; McDonald-McGinn D.M.; Zackai E.H.; Wall S.A.; Muenke M.; Wilkie A.O.M.;
Am. J. Hum. Genet. 70:472-486(2002)
Cited for: VARIANTS CS CYS-105; PRO-267; VAL-276; CYS-281; PRO-289; ARG-338; HIS-340; PHE-342; TRP-342; CYS-347; CYS-354; HIS-549 AND GLY-678; VARIANTS PS PHE-172; 252-PHE-SER-253; CYS-290; CYS-340; PRO-341; ARG-342; SER-342; CYS-375; GLY-565; ARG-641 AND GLU-663; VARIANTS APRS TRP-252 AND ARG-253; VARIANTS CS/PS PHE-278 AND TYR-342; VARIANT CRANIOSYNOSTOSIS ASN-659; VARIANTS THR-186 AND SER-315;
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.