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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9H4G0: Variant p.Pro854Ser

Band 4.1-like protein 1
Gene: EPB41L1
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Variant information Variant position: help 854 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 854 (P854S, p.Pro854Ser). 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 MRD11; results in a 50% reduction of interaction of 4.1N protein to GRIA1 compared to wild-type. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 854 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 881 The length of the canonical sequence.
Location on the sequence: help EDVDQDQALALAIKEAKLQH P DMLVTKAVVYRETDPSPEER 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                         EDVDQDQALALAIKEAKLQHPDMLVTKAVVYRETDPSPEER

Mouse                         EDVDQDQALALAIKEAKLQHPDMLVTKAVVYRETDPSPEER

Rat                           EDVDQDQALALAIKEAKLQHPDMLVTKAVVYRETDPSPEER
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 – 881 Band 4.1-like protein 1
Region 746 – 881 C-terminal (CTD)
Modified residue 870 – 870 Phosphoserine



Literature citations
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.
Hamdan F.F.; Gauthier J.; Araki Y.; Lin D.T.; Yoshizawa Y.; Higashi K.; Park A.R.; Spiegelman D.; Dobrzeniecka S.; Piton A.; Tomitori H.; Daoud H.; Massicotte C.; Henrion E.; Diallo O.; Shekarabi M.; Marineau C.; Shevell M.; Maranda B.; Mitchell G.; Nadeau A.; D'Anjou G.; Vanasse M.; Srour M.; Lafreniere R.G.; Drapeau P.; Lacaille J.C.; Kim E.; Lee J.R.; Igarashi K.; Huganir R.L.; Rouleau G.A.; Michaud J.L.;
Am. J. Hum. Genet. 88:306-316(2011)
Cited for: VARIANT MRD11 SER-854; CHARACTERIZATION OF VARIANT MRD11 SER-854;
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.