Variant position: 1518 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 4646 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 KEHINSVSAMKLSPYYKVFE EDALSWEDKLNRIMALFDVWI
Mouse KEHINSVSAMKLSPYYKVFE EDALSWEDKLNRIMALFDVWI
Rat KEHINSVSAMKLSPYYKVFE EDALSWEDKLNRIMALFDVWI
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
2 – 4646 Cytoplasmic dynein 1 heavy chain 1
53 – 1867 Stem
Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.
Willemsen M.H.; Vissers L.E.; Willemsen M.A.; van Bon B.W.; Kroes T.; de Ligt J.; de Vries B.B.; Schoots J.; Lugtenberg D.; Hamel B.C.; van Bokhoven H.; Brunner H.G.; Veltman J.A.; Kleefstra T.;
J. Med. Genet. 49:179-183(2012)
Cited for: VARIANT MRD13 LYS-1518;
Diagnostic exome sequencing in persons with severe intellectual disability.
de Ligt J.; Willemsen M.H.; van Bon B.W.; Kleefstra T.; Yntema H.G.; Kroes T.; Vulto-van Silfhout A.T.; Koolen D.A.; de Vries P.; Gilissen C.; del Rosario M.; Hoischen A.; Scheffer H.; de Vries B.B.; Brunner H.G.; Veltman J.A.; Vissers L.E.;
N. Engl. J. Med. 367:1921-1929(2012)
Cited for: VARIANT MRD13 LYS-1518; VARIANTS ALA-142; LEU-1250; MET-2247; CYS-4143; SER-4285; THR-4421; SER-4507 AND GLY-4603;
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.