Sequence information
Variant position: 295 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 856 The length of the canonical sequence.
Location on the sequence:
KEVCKMLIHMRHPEVYHHLG
V VPPRGVLLHGPPGCGKTLLA
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 KEVCKMLIH-MRHPEVYHHLGV VPPRGVLLHGPPGCGKTLLA
Mouse KEVCKMLIH-MRHPEVYQHLGV VPPRGVLLHGPPGCGKTLL
Slime mold RDIREHIEYPICHPEIYSHLGV EPPRGILLHGPSGCGKTLL
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 – 856
Nuclear valosin-containing protein-like
Region
267 – 474
Interaction with WDR74
Mutagenesis
311 – 311
K -> M. Loss of ATP-binding. Significant reduction in interaction with TERT and in telomerase activity. Loss of interaction with MTREX.
Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
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.