Variant position: 973 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2477 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 RLPISRNTFAEVTGLSPGVT YYFKVFAVSHGRESKPLTAQQ
Mouse RLPVNRNTFAEITGLSPGVT YLFKVFAVHQGRESNPLTAQQ
Rat RLPVNRNTFAEVTGLSPGVT YLFKVFAVHQGRESKPLTAQQ
Bovine RLPVSRNTFAEVTGLSPGVT YHFKVFAVNQGRESKPLTAQQ
Horse RLPISRNTFAEVTGLSPGVT YHFKIFAVNHGRESKPLTGEQ
Chicken RLPITRSSFAEVVDLLPGTT YLFKIFAVSHGRESKPLTGEQ
Xenopus laevis NLPVNRNTFAEVVNLQPGRT YSFEVYAVNRGQESEPLVGEF
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.
Mutations in FN1 cause glomerulopathy with fibronectin deposits.
Castelletti F.; Donadelli R.; Banterla F.; Hildebrandt F.; Zipfel P.F.; Bresin E.; Otto E.; Skerka C.; Renieri A.; Todeschini M.; Caprioli J.; Caruso R.M.; Artuso R.; Remuzzi G.; Noris M.;
Proc. Natl. Acad. Sci. U.S.A. 105:2538-2543(2008)
Cited for: VARIANTS GFND2 CYS-973; ARG-1925 AND ARG-1974; VARIANTS LEU-15 AND VAL-2051; CHARACTERIZATION OF VARIANTS GFND2 ARG-1925 AND ARG-1974;
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.