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UniProtKB/Swiss-Prot Q8NCM8: Variant p.Arg2662Gln

Cytoplasmic dynein 2 heavy chain 1
Gene: DYNC2H1
Variant information

Variant position:  2662
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Arginine (R) to Glutamine (Q) at position 2662 (R2662Q, p.Arg2662Gln).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from large size and basic (R) to medium size and polar (Q)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In SRTD3.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  2662
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  4307
The length of the canonical sequence.

Location on the sequence:   RVLSFPGGSLLLAGRSGVGR  R TITSLVSHMHGAVLFSPKIS
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                         RVLSFPGGSLLLAGRSGVGRRTITSLVSHMHGAVLFSPKIS

Mouse                         RVLSFPGGSLLLAGRSGVGRRTVTSLVSHMHGAVLFSPKIS

Rat                           RVLSFPGGSLLLAGRSGVGRRTVTSLVSHMHGAVLFSPKIS

Caenorhabditis elegans        RVLTGPGGHLFLPGRPGFGRRDSVRLVAHMHNIQVFSPPVT

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.

TypePositionsDescription
Chain 1 – 4307 Cytoplasmic dynein 2 heavy chain 1
Nucleotide binding 2655 – 2662 ATP
Region 2617 – 2863 AAA 4
Alternative sequence 736 – 4122 Missing. In isoform 3.
Helix 2661 – 2672


Literature citations

NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.
El Hokayem J.; Huber C.; Couve A.; Aziza J.; Baujat G.; Bouvier R.; Cavalcanti D.P.; Collins F.A.; Cordier M.P.; Delezoide A.L.; Gonzales M.; Johnson D.; Le Merrer M.; Levy-Mozziconacci A.; Loget P.; Martin-Coignard D.; Martinovic J.; Mortier G.R.; Perez M.J.; Roume J.; Scarano G.; Munnich A.; Cormier-Daire V.;
J. Med. Genet. 49:227-233(2012)
Cited for: VARIANTS SRTD3 CYS-330; GLY-338; CYS-430; ARG-495; CYS-1423; SER-2496 AND GLN-2662;

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.