UniProtKB/Swiss-Prot P07949: Variant p.Asn359Lys

Proto-oncogene tyrosine-protein kinase receptor Ret
Gene: RET
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Variant information Variant position:

359 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 Asparagine (N) to Lysine (K) at position 359 (N359K, p.Asn359Lys). 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 medium size and polar (N) to large size and basic (K) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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:

In HSCR1; uncertain significance. Any additional useful information about the variant.

Sequence information Variant position:

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

1114 The length of the canonical sequence.
Location on the sequence:

SVQANGSFVRATVHDYRLVL N RNLSISENRTMQLAVLVNDS 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                         SVQANGSFVRATVHDYRLVLNRNLSISENRTMQLAVLVNDS

Mouse                         LVQVNNNSVRATMHNYKLILNRSLSISESRVLQLAVLVNDS

Rat                           LVQSNNNSVRATMHNYKLVLNRSLSISESRVLQLVVLVNDS

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	29 – 1114	Proto-oncogene tyrosine-protein kinase receptor Ret
Chain	29 – 707	Extracellular cell-membrane anchored RET cadherin 120 kDa fragment
Topological domain	29 – 635	Extracellular
Glycosylation	343 – 343	N-linked (GlcNAc...) asparagine
Glycosylation	361 – 361	N-linked (GlcNAc...) asparagine
Glycosylation	367 – 367	N-linked (GlcNAc...) asparagine
Glycosylation	377 – 377	N-linked (GlcNAc...) asparagine

Literature citations
Mutations in three genes are found associated with the development of Hirschsprung disease: RET, EDNRB and EDN3.
Hofstra R.M.W.; Osinga J.; Stulp R.P.; Scheffer H.; Meijers C.; Buys C.H.C.M.;
Cited for: VARIANTS HSCR1 TYR-157; LYS-359; TYR-609; ARG-620; ASN-1059 DEL AND PRO-1061;

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.