UniProtKB/Swiss-Prot Q9BXM0: Variant p.Arg1335Gln

Periaxin
Gene: PRX
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Variant information Variant position:

1335 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 Arginine (R) to Glutamine (Q) at position 1335 (R1335Q, p.Arg1335Gln). 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 medium size and polar (Q) 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:

Found in a patient with a complex hereditary motor and sensory neuropathy with dysarthria, joints hypermobility and cerebellar signs; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1384489319 [ dbSNP | Ensembl ]

Sequence information Variant position:

1335 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1461 The length of the canonical sequence.
Location on the sequence:

RAKEGAEEGEKAKSPKLRLP R VGFSQSEMVTGEGSPSPEEE 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                         RAKEGAEEGEKAKSPKLRLPRVGFSQSEMVTGEGSPSPEEE

Mouse                         KAKEGIEVGEKVKSPKLRLPRVGFSQSESVSGEGSPSP---

Rat                           RAKEGIETGEKVKSPKLRLPRVGFSQSESASGEGSPSP---

Bovine                        RAKEGAEEGEKAKSPKLKLPHVGFSQSEAVSGEGSPSP---

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 – 1461	Periaxin
Region	1318 – 1461	Disordered
Modified residue	1349 – 1349	Phosphoserine
Modified residue	1351 – 1351	Phosphoserine
Alternative sequence	148 – 1461	Missing. In isoform 2.

Literature citations
Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.
Schabhuettl M.; Wieland T.; Senderek J.; Baets J.; Timmerman V.; De Jonghe P.; Reilly M.M.; Stieglbauer K.; Laich E.; Windhager R.; Erwa W.; Trajanoski S.; Strom T.M.; Auer-Grumbach M.;
J. Neurol. 261:970-982(2014)
Cited for: VARIANTS ALA-525 AND GLN-1335;

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.