UniProtKB/Swiss-Prot Q8IVL1: Variant p.Arg109Lys

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 109 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: LB/B 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 Lysine (K) at position 109 (R109K, p.Arg109Lys). 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: Similar physico-chemical property. Both residues are large size and basic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: 2 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
Other resources: Links to websites of interest for the variant.

• Variant rs6483617 [ dbSNP | Ensembl ]

Sequence information

Variant position: 109 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2488 The length of the canonical sequence.
Location on the sequence: QIYTDWANHYLAKSGHKRLI R DLQQDVTDGVLLAQIIQVVA 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.
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 – 2488	Neuron navigator 2
Domain	85 – 192	Calponin-homology (CH)
Alternative sequence	1 – 1896	Missing. In isoform 7.
Alternative sequence	1 – 1578	Missing. In isoform 6.
Alternative sequence	1 – 937	Missing. In isoform 5.

Literature citations

Isolation of HELAD1, a novel human helicase gene up-regulated in colorectal carcinomas.
Ishiguro H.; Shimokawa T.; Tsunoda T.; Tanaka T.; Fujii Y.; Nakamura Y.; Furukawa Y.;
Oncogene 21:6387-6394(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3 AND 4); SUBCELLULAR LOCATION; FUNCTION AS A HELICASE; INDUCTION; TISSUE SPECIFICITY; VARIANTS LYS-109 AND ALA-1077; Sensory deficits in mice hypomorphic for a mammalian homologue of unc-53.
Peeters P.J.; Baker A.; Goris I.; Daneels G.; Verhasselt P.; Luyten W.H.M.L.; Geysen J.J.G.H.; Kass S.U.; Moechars D.W.E.;
Brain Res. Dev. Brain Res. 150:89-101(2004)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 8; 9; 10; 11; 12 AND 13); FUNCTION; VARIANTS LYS-109 AND ALA-1077;