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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P01138: Variant p.Arg221Trp

Beta-nerve growth factor
Gene: NGF
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Variant information Variant position: help 221 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Arginine (R) to Tryptophan (W) at position 221 (R221W, p.Arg221Trp). 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: help 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: help -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: help In HSAN5; impaired processing of the precursor to mature NGF; nearly abolishes secretion; loss of function in stimulating cell differentiation; loss of the ability to activate the NTRK1 receptor. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 221 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 241 The length of the canonical sequence.
Location on the sequence: help CTTTHTFVKALTMDGKQAAW R FIRIDTACVCVLSRKAVRRA 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         CTTTHTFVKALTMDGKQAAWRFIRIDTACVCVLSRKAVRRA

Gorilla                       CTTTHTFVKALTMDGKQAAWRFIRIDTACVCVLSRKAVRRA

Chimpanzee                    CTTTHTFVKALTMDGKQAAWRFIRIDTACVCVLSRKAVRRA

Mouse                         CTTTHTFVKALTTDEKQAAWRFIRIDTACVCVLSRKATRRG

Rat                           CTTTHTFVKALTTDDKQAAWRFIRIDTACVCVLSRKAARRG

Bovine                        CTTTHTFVKALTMDGKQAAWRFIRIDTACVCVLSRKTGQRA

Chicken                       CTTTHTFVKALTMEGKQAAWRFIRIDTACVCVLSRKSGRP-

Xenopus laevis                CTTTHTFVKALTMEGKQAAWRFIRIDTACVCVLSRKG--RT

Zebrafish                     CTNSHTFVRALTSFKNLVAWRLIRINVACVCVLSRKSWRA-

Sequence annotation in neighborhood: help 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 122 – 241 Beta-nerve growth factor
Binding site 209 – 209
Binding site 209 – 209
Disulfide bond 179 – 229
Disulfide bond 189 – 231
Beta strand 215 – 235



Literature citations
A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception.
Einarsdottir E.; Carlsson A.; Minde J.; Toolanen G.; Svensson O.; Solders G.; Holmgren G.; Holmberg D.; Holmberg M.;
Hum. Mol. Genet. 13:799-805(2004)
Cited for: VARIANT HSAN5 TRP-221; FUNCTION; A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy.
Carvalho O.P.; Thornton G.K.; Hertecant J.; Houlden H.; Nicholas A.K.; Cox J.J.; Rielly M.; Al-Gazali L.; Woods C.G.;
J. Med. Genet. 48:131-135(2011)
Cited for: CHARACTERIZATION OF VARIANT HSAN5 TRP-221; FUNCTION; SUBCELLULAR LOCATION;
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.