UniProtKB/SwissProt variant VAR

Variant information

Variant position:

780

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

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:

From Threonine (T) to Lysine (K) at position 780 (T780K, p.Thr780Lys).

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 (T) to large size and basic (K)

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

Variant description:

In NF1.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs199474746 [ dbSNP | Ensembl ]

Sequence information

Variant position:

780

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:

2839

The length of the canonical sequence.

Location on the sequence:

MALLRRIEHPTAGNTEAWED T HAKWEQATKLILNYPKAKME

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                         MALLRRIEHPTAGNTEAWEDTHAKWEQATKLILNYPKAKME

Mouse                         MALLRRIEHPTAGNIEAWEDTHAKWEQATKLILNYPKAKME

Rat                           MALLRRIEHPTAGNTEAWEDTHAKWEQATKLILNYPKAKME

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	2 – 2839	Neurofibromin
Chain	2 – 1305	Neurofibromin truncated
Alternative sequence	552 – 2839	Missing. In isoform 3.
Alternative sequence	594 – 2839	Missing. In isoform 5.
Helix	771 – 792

Literature citations

Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.
Fahsold R.; Hoffmeyer S.; Mischung C.; Gille C.; Ehlers C.; Kuecuekceylan N.; Abdel-Nour M.; Gewies A.; Peters H.; Kaufmann D.; Buske A.; Tinschert S.; Nuernberg P.;
Am. J. Hum. Genet. 66:790-818(2000)
Cited for: VARIANTS NF1 PRO-216; PRO-357; CYS-491; PRO-549; THR-581; ARG-583; PHE-665; PRO-695; PRO-763; SER-777; LYS-780; PRO-781; PRO-847; SER-1156; PRO-1250; GLN-1276; PRO-1276; PRO-1446; VAL-1605 AND ILE-2507; VARIANT GLU-176;

Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 (NF1) gene.
Han S.S.; Cooper D.N.; Upadhyaya M.N.;
Hum. Genet. 109:487-497(2001)
Cited for: VARIANTS NF1 LYS-780; CYS-784; PRO-1147; CYS-1193; ARG-1444; SER-1785; ASN-2012 AND LYS-2357;

NF1 gene analysis based on DHPLC.
De Luca A.; Buccino A.; Gianni D.; Mangino M.; Giustini S.; Richetta A.; Divona L.; Calvieri S.; Mingarelli R.; Dallapiccola B.;
Hum. Mutat. 21:171-172(2003)
Cited for: VARIANTS NF1 LYS-780; PRO-847; GLU-848 AND ARG-968; ASN-1444; LEU-1953 DEL AND ARG-2001;

Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.
De Luca A.; Schirinzi A.; Buccino A.; Bottillo I.; Sinibaldi L.; Torrente I.; Ciavarella A.; Dottorini T.; Porciello R.; Giustini S.; Calvieri S.; Dallapiccola B.;
Hum. Mutat. 23:629-629(2004)
Cited for: VARIANTS NF1 ASN-157; ARG-629; SER-777; LYS-780; ARG-784; PRO-847; GLU-848; ARG-968; ASN-1444; LEU-1953 DEL AND ARG-2001; VARIANT GLU-176;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P21359: Variant p.Thr780Lys