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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P0C7U0: Variant p.Pro50His

Protein ELFN1
Gene: ELFN1
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Variant information Variant position: help 50 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 Histidine (H) at position 50 (P50H, p.Pro50His). 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 medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 DONDS; likely pathogenic; decreased localization to the cell membrane. Any additional useful information about the variant.


Sequence information Variant position: help 50 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 828 The length of the canonical sequence.
Location on the sequence: help WLIEGDKGFVWLAICSQNQP P YEAIPQQINSTIVDLRLNEN 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                         WLIEGDKGFVWLAICSQNQPPYEAIPQQINSTIVDLRLNEN

Mouse                         WLIEGDKGFVWLAICSQNQPPYEAIPQQINNTIVDLRLNEN
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 28 – 828 Protein ELFN1
Topological domain 28 – 418 Extracellular
Glycosylation 59 – 59 N-linked (GlcNAc...) asparagine



Literature citations
Exome sequencing identifies novel and known mutations in families with intellectual disability.
Rasheed M.; Khan V.; Harripaul R.; Siddiqui M.; Malik M.A.; Ullah Z.; Zahid M.; Vincent J.B.; Ansar M.;
BMC Med. Genomics 14:211-211(2021)
Cited for: VARIANT DONDS HIS-50; INVOLVEMENT IN DONDS;
ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy.
Dore R.; Chang C.T.; Decleve A.; Brunori G.; Ludlam W.G.; Huang A.; Movahedinia M.; Damseh N.S.; Anwar I.; Vahidi Mehrjardi M.Y.; Ny A.; Khorrami M.; Kheirollahi M.; Frederiksen H.; Eghbal F.; Mirjalili M.R.; Dehghani M.; Karimiani E.G.; Oreshkov S.; Alves C.; Striano P.; Suri M.; Martinez-Agosto J.; Ansar M.; Zahid M.; Akram S.; Ansar M.; Nelson S.F.; Antonarakis S.E.; Houlden H.; Copmans D.; Martemyanov K.A.; Maroofian R.;
Genet. Med. 27:101506-101506(2025)
Cited for: VARIANTS DONDS HIS-50 AND VAL-159 DEL; INVOLVEMENT IN DONDS; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS DONDS HIS-50 AND VAL-159 DEL;
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.