Sequence information
Variant position: 654 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 4516 The length of the canonical sequence.
Location on the sequence:
NMKWAQQVLQRLQMFWSNFA
S LRYLFLGNPDHALVYQKYVE
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 NMKWAQQVLQRLQMFWSNFAS LRYLFLGNPDHALVYQKYVE
Pig NIKWAKEVLDRLQMFWSNFAS LRYLSLESPDDAVVYQKYTE
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
1 – 4516
Dynein axonemal heavy chain 11
Region
1 – 1854
Stem
Literature citations
Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia.
Bartoloni L.; Blouin J.-L.; Pan Y.; Gehrig C.; Maiti A.K.; Scamuffa N.; Rossier C.; Jorissen M.; Armengot M.; Meeks M.; Mitchison H.M.; Chung E.M.K.; Delozier-Blanchet C.D.; Craigen W.J.; Antonarakis S.E.;
Proc. Natl. Acad. Sci. U.S.A. 99:10282-10286(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; INVOLVEMENT IN CILD7; VARIANT CILD7 GLN-2997; VARIANTS LEU-34; ARG-639; CYS-654; ALA-1023; ALA-1038; GLY-1635; THR-3467; PRO-3758; VAL-4165 AND ILE-4170;
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.