Sequence information
Variant position: 340 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:
TDKEIEVLYIRNVTFEDAGE
Y TCLAGNSIGISFHSAWLTVL
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 TDKEIEVLYIRNVTFEDAGEY TCLAGNSIGISFHSAWLTVL----
Mouse TDKEIEVLYIRNVTFEDAGEY TCLAGNSIGISFHSAWLTVL
Chicken TDKEIEVLYIRNVTFEDAGEY TCLAGNSIGISFHTAWLTVL
Xenopus laevis TDEEIEVLYVRNVSFEDAGEY TCIAGNSIGISQHSAWLTVH
Zebrafish TDKEIEVLYLPNVTFEDAGEY TCLAGNSIGISYHTAWLTVH
Drosophila TNDSV-VLTLRNVTFDQEGWY TCLASSGLGRSNSSVYLRVV
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
Chain
22 – 821
Fibroblast growth factor receptor 2
Topological domain
22 – 377
Extracellular
Domain
256 – 358
Ig-like C2-type 3
Glycosylation
331 – 331
N-linked (GlcNAc...) asparagine
Disulfide bond
278 – 342
Alternative sequence
250 – 361
Missing. In isoform 17.
Alternative sequence
255 – 821
Missing. In isoform 8.
Alternative sequence
314 – 429
Missing. In isoform 9.
Beta strand
338 – 346
Literature citations
Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome.
Cornejo-Roldan L.R.; Roessler E.; Muenke M.;
Hum. Genet. 104:425-431(1999)
Cited for: VARIANTS PS CYS-340 AND GLY-342;
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;
Disclaimer:
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.