UniProtKB/Swiss-Prot P05019: Variant p.Arg98Trp

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 98 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: US 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 Tryptophan (W) at position 98 (R98W, p.Arg98Trp). 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 large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: -3 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: Found in a patient with primordial dwarfism; uncertain significance. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs587779350 [ dbSNP | Ensembl ]

Sequence information

Variant position: 98 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 195 The length of the canonical sequence.
Location on the sequence: GYGSSSRRAPQTGIVDECCF R SCDLRRLEMYCAPLKPAKSA 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	49 – 118	Insulin-like growth factor I
Region	90 – 110	A
Disulfide bond	66 – 109
Disulfide bond	95 – 100
Mutagenesis	84 – 84	R -> E. Dominant-negative mutant, no effect on IGFR1-binding, defective in integrin-binding and the formation of ternary complex with integrins and IGFR1, defective in inducing IGF1 signaling and cell proliferation, and suppresses activation of IGF1R by insulin and tumorigenesis in vivo; when associated with E-85.
Mutagenesis	85 – 85	R -> E. Dominant-negative mutant, no effect on IGFR1-binding, defective in integrin-binding and the formation of ternary complex with integrins and IGFR1, defective in inducing IGF1 signaling and cell proliferation, and suppresses activation of IGF1R by insulin and tumorigenesis in vivo; when associated with E-84.
Beta strand	96 – 98

Literature citations

Genomic analysis of primordial dwarfism reveals novel disease genes.
Shaheen R.; Faqeih E.; Ansari S.; Abdel-Salam G.; Al-Hassnan Z.N.; Al-Shidi T.; Alomar R.; Sogaty S.; Alkuraya F.S.;
Genome Res. 24:291-299(2014)
Cited for: VARIANT TRP-98;