UniProtKB/Swiss-Prot P04629: Variant p.Arg85Ser

High affinity nerve growth factor receptor
Gene: NTRK1
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Variant information Variant position:

85 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 Serine (S) at position 85 (R85S, p.Arg85Ser). 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 small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-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
Other resources:

Links to websites of interest for the variant.

Variant rs543320028 [ dbSNP | Ensembl ]

Sequence information Variant position:

85 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

796 The length of the canonical sequence.
Location on the sequence:

AENLTELYIENQQHLQHLEL R DLRGLGELRNLTIVKSGLRF 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                         AENLTELYIENQQHLQHLELRDLRGLGELRNLTIVKSGLRF

Mouse                         AGNLTELYVENQQHLQRLEFEDLQGLGELRSLTIVKSGLRF

Rat                           AGNLTELYVENQRDLQRLEFEDLQGLGELRSLTIVKSGLRF

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	33 – 796	High affinity nerve growth factor receptor
Topological domain	33 – 423	Extracellular
Glycosylation	67 – 67	N-linked (GlcNAc...) asparagine
Glycosylation	95 – 95	N-linked (GlcNAc...) asparagine
Helix	84 – 87

Literature citations
Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor.
Mardy S.; Miura Y.; Endo F.; Matsuda I.; Sztriha L.; Frossard P.; Moosa A.; Ismail E.A.R.; Macaya A.; Andria G.; Toscano E.; Gibson W.; Graham G.E.; Indo Y.;
Am. J. Hum. Genet. 64:1570-1579(1999)
Cited for: VARIANTS CIPA PRO-213; TRP-649 AND SER-714; VARIANTS SER-85; TYR-604 AND VAL-613; Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor.
Mardy S.; Miura Y.; Endo F.; Matsuda I.; Indo Y.;
Hum. Mol. Genet. 10:179-188(2001)
Cited for: CHARACTERIZATION OF VARIANTS CIPA PRO-93; PRO-213; ARG-522; ARG-577; TRP-649; CYS-654 AND SER-714; CHARACTERIZATION OF VARIANTS SER-85; TYR-604; VAL-613 AND TYR-674;

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.