Sequence information
Variant position: 375 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:
AWLTVLPAPGREKEITASPD
Y LEIAIYCIGVFLIACMVVTV
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 AWLTVL----PAPGREKEITASPDY LEIAIYCIGVFLIACMVVTV
Mouse AWLTVL----PAPVREKEITASPDY LEIAIYCIGVFLIACM
Chicken AWLTVL----PAPEKEKEFPTSPDY LEIAIYCIGVFLIACM
Xenopus laevis AWLTVH----PAPVNPLEDNPVPYY MEIGIYSTGIFIIFCM
Zebrafish AWLTVH----PAETNPIETDYPPDY VEIAIYCIGVFLIACM
Drosophila VYLRVVSPLPPLEIYALLHAHPLGF TLAAITIVALFLLGSA
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
Alternative sequence
255 – 821
Missing. In isoform 8.
Alternative sequence
314 – 429
Missing. In isoform 9.
Alternative sequence
361 – 361
P -> PKQQ. In isoform 3, isoform 4, isoform 11, isoform 12, isoform 13 and isoform 16.
Alternative sequence
366 – 821
Missing. In isoform 13.
Literature citations
Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.
Przylepa K.A.; Paznekas W.A.; Zhang M.; Golabi M.; Bias W.; Bamshad M.J.; Carey J.C.; Hall B.D.; Stevenson R.; Orlow S.J.; Cohen M.M. Jr.; Jabs E.W.;
Nat. Genet. 13:492-494(1996)
Cited for: VARIANTS BSTVS CYS-372 AND CYS-375;
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;
Mutation in the FGFR2 gene in a Taiwanese patient with Beare-Stevenson cutis gyrata syndrome.
Wang T.-J.; Huang C.-B.; Tsai F.-J.; Wu J.-Y.; Lai R.-B.; Hsiao M.;
Clin. Genet. 61:218-221(2002)
Cited for: VARIANT BSTVS CYS-375;
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.