Sequence information
Variant position: 252 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 822 The length of the canonical sequence.
Location on the sequence:
VENEYGSINHTYQLDVVERS
P HRPILQAGLPANKTVALGSN
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 VENEYGSINHTYQLDVVERSP HRPILQAGLPANKTVALGSN
Mouse VENEYGSINHTYQLDVVERSP HRPILQAGLPANKTVALGSN
Rat VENEYGSINHTYQLDVVERSP HRPILQAGLPANKTVALGSN
Chicken VENKYGSINHTYQLDVVERSP HRPILQAGLPANKTVALGSN
Xenopus laevis VENKYGAINHTYQLDVVERSP HRPILQAGLPANTSVTVGTT
Drosophila VCNSLGCIRHDTQVIVSDRVN HKPILMTG-PLNLTLVVNST
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 – 822
Fibroblast growth factor receptor 1
Topological domain
22 – 376
Extracellular
Glycosylation
240 – 240
N-linked (GlcNAc...) asparagine
Glycosylation
264 – 264
N-linked (GlcNAc...) asparagine
Alternative sequence
62 – 822
Missing. In isoform 3.
Alternative sequence
151 – 822
Missing. In isoform 16.
Literature citations
Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.
Roscioli T.; Flanagan S.; Kumar P.; Masel J.; Gattas M.; Hyland V.J.; Glass I.A.;
Am. J. Med. Genet. 93:22-28(2000)
Cited for: INVOLVEMENT IN JWS; VARIANT JWS ARG-252;
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome.
Muenke M.; Schell U.; Hehr A.; Robin N.H.; Losken H.W.; Schinzel A.; Pulleyn L.J.; Rutland P.; Reardon W.; Malcolm S.; Winter R.M.;
Nat. Genet. 8:269-274(1994)
Cited for: VARIANT PS ARG-252;
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.