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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P01138: Variant p.Ser187Asn

Beta-nerve growth factor
Gene: NGF
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Variant information Variant position: help 187 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Serine (S) to Asparagine (N) at position 187 (S187N, p.Ser187Asn). 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 small size and polar (S) to medium size and polar (N) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help Found in a patient with congenital insensitivity to pain; uncertain significance. Any additional useful information about the variant.


Sequence information Variant position: help 187 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 NSVFKQYFFETKCRDPNPVD S GCRGIDSKHWNSYCTTTHTF 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                         NSVFKQYFFETKCRDPNPVDSGCRGIDSKHWNSYCTTTHTF

Gorilla                       NSVFKQYFFETKCRDPNPVDSGCRGIDSKHWNSYCTTTHTF

Chimpanzee                    NSVFKQYFFETKCRDPNPVDSGCRGIDSKHWNSYCTTTHTF

Mouse                         NSVFRQYFFETKCRASNPVESGCRGIDSKHWNSYCTTTHTF

Rat                           NSVFKQYFFETKCRAPNPVESGCRGIDSKHWNSYCTTTHTF

Bovine                        NSVFKQYFFETKCRDPNPVDSGCRGIDAKHWNSYCTTTHTF

Chicken                       NNVFKQYFFETKCRDPRPVSSGCRGIDAKHWNSYCTTTHTF

Xenopus laevis                NSVFKQYFFETKCRDPKPVSSGCRGIDAKHWNSYCTTTHTF

Zebrafish                     NSKKKQYFFETTCSSGRTGGSGCLGIDARHWNSYCTNSHTF

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 173 – 173 in other chain
Disulfide bond 136 – 201
Disulfide bond 179 – 229
Turn 183 – 187



Literature citations
Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.
Davidson G.L.; Murphy S.M.; Polke J.M.; Laura M.; Salih M.A.; Muntoni F.; Blake J.; Brandner S.; Davies N.; Horvath R.; Price S.; Donaghy M.; Roberts M.; Foulds N.; Ramdharry G.; Soler D.; Lunn M.P.; Manji H.; Davis M.B.; Houlden H.; Reilly M.M.;
J. Neurol. 259:1673-1685(2012)
Cited for: VARIANT HSAN5 GLY-GLU-162 INS; VARIANT ASN-187;
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.