UniProtKB/SwissProt variant VAR

Variant information

Variant position:

388

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 Leucine (L) to Proline (P) at position 388 (L388P, p.Leu388Pro).

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:

Similar physico-chemical property. Both residues are medium size and hydrophobic.

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

-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:

In PC2.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs56690581 [ dbSNP | Ensembl ]

Sequence information

Variant position:

388

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

Protein sequence length:

432

The length of the canonical sequence.

Location on the sequence:

KILLDVKTRLEQEIATYRRL L EGEDAHLTQYKKEPVTTRQV

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                         KILLDVKTRLEQEIATYRRLLEGEDAHLTQYK-KEPVTTRQV

Chimpanzee                    KILLDVKTRLEQEIATYRRLLEGEDAHLTQYK-KEPVTTRQ

Mouse                         KILLDVKTRLEQEIATYRRLLEGEDAHLTQYKPKEPVTTRQ

Rat                           KILLDVKTRLEQEIATYRRLLEGEDAHLTQYKPKEPVTTRQ

Bovine                        KILLDVKTRLEQEIATYRRLLEGEDAHLTQYKTKEPVTTRQ

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	1 – 432	Keratin, type I cytoskeletal 17
Domain	84 – 395	IF rod
Region	251 – 392	Coil 2
Cross	399 – 399	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
Cross	399 – 399	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
Cross	400 – 400	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
Cross	400 – 400	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate

Literature citations

The genetic basis of pachyonychia congenita.
Smith F.J.; Liao H.; Cassidy A.J.; Stewart A.; Hamill K.J.; Wood P.; Joval I.; van Steensel M.A.; Bjoerck E.; Callif-Daley F.; Pals G.; Collins P.; Leachman S.A.; Munro C.S.; McLean W.H.;
J. Investig. Dermatol. Symp. Proc. 10:21-30(2005)
Cited for: VARIANTS PC2 SER-92 AND PRO-388;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q04695: Variant p.Leu388Pro