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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9Y6C2: Variant p.Arg250Cys

EMILIN-1
Gene: EMILIN1
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Variant information Variant position: help 250 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 Arginine (R) to Cysteine (C) at position 250 (R250C, p.Arg250Cys). 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 large size and basic (R) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 HMND10; unable to rescue locomotor defects in Emilin1a zebrafish morphants; reduced extracellular deposition of EMILIN-1 from patient cells. Any additional useful information about the variant.


Sequence information Variant position: help 250 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1016 The length of the canonical sequence.
Location on the sequence: help RPGVHETLNEIQHQLQLLDT R VSTHDQELGHLNNHHGGSSS 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                         RPGVHETLNEIQHQLQLLDTRVSTHDQELGHLNNHHGGSSS

Mouse                         RPGVHETLSEIQQQLQLLDNRVSTHDQELGHLNNHHNG-GP
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 22 – 1016 EMILIN-1
Coiled coil 216 – 256
Alternative sequence 1 – 674 Missing. In isoform 2.



Literature citations
Distal motor neuropathy associated with novel EMILIN1 mutation.
Iacomino M.; Doliana R.; Marchese M.; Capuano A.; Striano P.; Spessotto P.; Bosisio G.; Iodice R.; Manganelli F.; Lanteri P.; Orsini A.; Baldassari S.; Baratto S.; Fruscione F.; Prada V.; Broda P.; Tessa A.; Bertocci G.; Schenone A.; Colombatti A.; Minetti C.; Santorelli F.M.; Zara F.; Fiorillo C.;
Neurobiol. Dis. 137:104757-104757(2020)
Cited for: VARIANT HMND10 CYS-250; INVOLVEMENT IN HMND10; TISSUE SPECIFICITY; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANT HMND10 CYS-250;
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.