Sequence information
Variant position: 1204 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2839 The length of the canonical sequence.
Location on the sequence:
TKILQQGTEFDTLAETVLAD
R FERLVELVTMMGDQGELPIA
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 TKILQQGTEFDTLAETVLADR FERLVELVTMMGDQGELPIA
Mouse TKILQQGTEFDTLAETVLADR FERLVELVTMMGDQGELPIA
Rat TKILQQGTEFDTLAETVLADR FERLVELVTMMGDQGELPIA
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
Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.
Ars E.; Serra E.; Garcia J.; Kruyer H.; Gaona A.; Lazaro C.; Estivill X.;
Hum. Mol. Genet. 9:237-247(2000)
Cited for: VARIANTS NF1 SER-117; TRP-1204; PRO-1446 AND 2387-ASN-PHE-2388 DEL;
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.