Variant position: 1287 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 4265 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 YQTMERIWKKIMKNAYENRE VINVCSDLRMLDSLRDCNKIL
Mouse YQTMERIWRKIMKNAYENRE VINVCSDQRLLDSLRDCNKLL
Rat YQTMERIWRKIMKNAYENRE VINVCSDQRLLDSLRDCNKLL
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
1 – 4265 Dynein axonemal heavy chain 1
1 – 1542 Stem
1206 – 4265 Missing. In isoform 3.
Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations.
Amiri-Yekta A.; Coutton C.; Kherraf Z.E.; Karaouzene T.; Le Tanno P.; Sanati M.H.; Sabbaghian M.; Almadani N.; Sadighi Gilani M.A.; Hosseini S.H.; Bahrami S.; Daneshipour A.; Bini M.; Arnoult C.; Colombo R.; Gourabi H.; Ray P.F.;
Hum. Reprod. 31:2872-2880(2016)
Cited for: INVOLVEMENT IN SPGF18; VARIANT SPGF18 GLY-1287;
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