UniProtKB/Swiss-Prot Q00839: Variant p.Phe712Leu

Heterogeneous nuclear ribonucleoprotein U
Gene: HNRNPU
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Variant information Variant position:

712 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 Phenylalanine (F) to Leucine (L) at position 712 (F712L, p.Phe712Leu). 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 aromatic (F) to medium size and hydrophobic (L) 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
Other resources:

Links to websites of interest for the variant.

Variant rs1052660 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

KNKSGKNQFNRGGGHRGRGG F NMRGGNFRGGAPGNRGGYNR 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                         KNKSGKNQFNRGGGHRGRGGFNMRGGNFRGGAPGNRGGYNR

Mouse                         KNKSGKNQFNRGGGHRGRGGFNMRGGNFRGGAPGNRGGYNR

Rat                           KNKSGKNQFNRGGGHRGRGGFNMRGGNFRGGAPGNRGGYNR

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 – 825	Heterogeneous nuclear ribonucleoprotein U
Region	671 – 749	Disordered
Modified residue	702 – 702	Omega-N-methylarginine
Modified residue	715 – 715	Asymmetric dimethylarginine
Modified residue	720 – 720	Asymmetric dimethylarginine
Modified residue	727 – 727	Asymmetric dimethylarginine

Literature citations
Primary structure and binding activity of the hnRNP U protein: binding RNA through RGG box.
Kiledjian M.; Dreyfuss G.;
EMBO J. 11:2655-2664(1992)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); SINGLE-STRANDED DNA-BINDING AND RNA-BINDING; RNA-BINDING REGION; VARIANT LEU-712; A variant of human scaffold attachment factor A (SAF-A), also known as heterogeneous nuclear ribonucleoprotein U (hnRNP-U).
Fackelmayer F.O.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT LEU-712;

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.