Sequence information
Variant position: 1404 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2871 The length of the canonical sequence.
Location on the sequence:
MGSYRCLCKEGYTGDGFTCT
D LDECSENLNLCGNGQCLNAP
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 MGSYRCLCKEGYTGDGFTCTD LDECSENLNLCGNGQCLNAP
Mouse MGSYRCLCKDGYTGDGFTCTD LDECSENLNLCGNGQCLNAP
Pig MGSYRCLCKEGYTGDGFTCAD LDECSENVKLCGNVQCLYAP
Bovine MGSYRCLCKEGYTGDGFTCTD LDECSENLNLCGNGQCLNAP
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.
Literature citations
Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: report of 12 novel mutations.
Hayward C.; Porteous M.E.M.; Brock D.J.H.;
Hum. Mutat. 10:280-289(1997)
Cited for: VARIANTS MFS ARG-111; CYS-545; CYS-627; GLY-750; ARG-1074; HIS-1170; TRP-1171; LYS-1173; TYR-1404; GLY-1610; LYS-1893; TRP-2099; TYR-2111; ARG-2258; TRP-2282 AND ARG-2489;
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.