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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P09651: Variant p.Pro340Ser

Heterogeneous nuclear ribonucleoprotein A1
Gene: HNRNPA1
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Variant information Variant position: help 340 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Proline (P) to Serine (S) at position 340 (P340S, p.Pro340Ser). 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: help Change from medium size and hydrophobic (P) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In ALS20; increases subcellular localization of HNRNPA1 in cytoplasmic inclusions with stress granules. Any additional useful information about the variant.


Sequence information Variant position: help 340 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 372 The length of the canonical sequence.
Location on the sequence: help NQSSNFGPMKGGNFGGRSSG P YGGGGQYFAKPRNQGGYGGS 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         NQSSN-FGPMK-GGNF-GGRSSGPYGGGGQYFAKPRNQGGYGGS

Rhesus macaque                NQSSN-FGPMK-GGNF-GGRSLGPYGGGGQYFAKPRNQGGY

Chimpanzee                    NQSSN-FGPMK-GGNF-GGRSSGPYGGGGQYFAKPRNQGGY

Mouse                         NQSSN-FGPMK-GGNF-GGRSSGPYGGGGQYFAKPRNQGGY

Rat                           NQSSN-FGPMK-GGNF-GGRSSGPYGGGGQYFAKPRNQGGY

Bovine                        NQSSN-FGPMK-GGNF-GGRSSGPYGGGGQYFAKPRNQGGY

Xenopus laevis                SQSSSNFGPMK-GGNYGGGRNSGPYGGG---------YGG-

Caenorhabditis elegans        QQQGGWGGPQQ-GG------------GGGGWGGQGQQQGGW

Drosophila                    QNYGG--GPQRGGGNF-NNNRMQPYQGGGGFKAGGGNQGNY
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 372 Heterogeneous nuclear ribonucleoprotein A1
Chain 2 – 372 Heterogeneous nuclear ribonucleoprotein A1, N-terminally processed
Region 317 – 372 Disordered
Region 320 – 357 Nuclear targeting sequence (M9)
Modified residue 336 – 336 Omega-N-methylarginine
Modified residue 337 – 337 Phosphoserine
Modified residue 350 – 350 N6-acetyllysine; alternate
Modified residue 352 – 352 Omega-N-methylarginine
Cross 350 – 350 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
Mutagenesis 326 – 326 G -> A. No nuclear import nor export.
Mutagenesis 327 – 327 P -> A. No nuclear import nor export.



Literature citations
Whole-exome sequencing identifies a missense mutation in hnRNPA1 in a family with flail arm ALS.
Liu Q.; Shu S.; Wang R.R.; Liu F.; Cui B.; Guo X.N.; Lu C.X.; Li X.G.; Liu M.S.; Peng B.; Cui L.Y.; Zhang X.;
Neurology 87:1763-1769(2016)
Cited for: VARIANTS ALS20 LYS-277 AND SER-340; CHARACTERIZATION OF VARIANT ALS20 SER-340; SUBCELLULAR LOCATION; VARIANT ARG-283;
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.