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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O00468: Variant p.Gly1709Arg

Agrin
Gene: AGRN
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Variant information Variant position: help 1709 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 Glycine (G) to Arginine (R) at position 1709 (G1709R, p.Gly1709Arg). 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 glycine (G) to large size and basic (R) 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 CMS8; results in disruption of the neuromuscular junction architecture; does not affect phosphorylation of MUSK; does not affect AChR clustering. Any additional useful information about the variant.


Sequence information Variant position: help 1709 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 2068 The length of the canonical sequence.
Location on the sequence: help DFVSLALRDRRLEFRYDLGK G AAVIRSREPVTLGAWTRVSL 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                         DFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSL

Mouse                         DFVSLALHNRHLEFRYDLGKGAAIIRSKEPIALGTWVRVFL

Rat                           DFVSLALHNRHLEFCYDLGKGAAVIRSKEPIALGTWVRVFL

Chicken                       DFVSLALHDGYLEYRYDLGKGAAVLRSKEPVPLNTWISVLL

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 30 – 2068 Agrin
Chain 1103 – 2068 Agrin C-terminal 110 kDa subunit
Chain 1103 – 1863 Agrin C-terminal 90 kDa fragment
Domain 1635 – 1822 Laminin G-like 2



Literature citations
Identification of an agrin mutation that causes congenital myasthenia and affects synapse function.
Huze C.; Bauche S.; Richard P.; Chevessier F.; Goillot E.; Gaudon K.; Ben Ammar A.; Chaboud A.; Grosjean I.; Lecuyer H.A.; Bernard V.; Rouche A.; Alexandri N.; Kuntzer T.; Fardeau M.; Fournier E.; Brancaccio A.; Ruegg M.A.; Koenig J.; Eymard B.; Schaeffer L.; Hantai D.;
Am. J. Hum. Genet. 85:155-167(2009)
Cited for: INVOLVEMENT IN CMS8; VARIANT CMS8 ARG-1709; VARIANTS LEU-23; ASN-58; ILE-105; MET-267; SER-375; VAL-728; ARG-852; MET-984; PHE-1088; LYS-1118; ARG-1135; LEU-1240; ARG-1341; LEU-1451; THR-1514; HIS-1565; ILE-1666; GLN-1671; PRO-1698; HIS-1734; ASN-1789 AND VAL-2046; FUNCTION; CHARACTERIZATION OF VARIANT CMS8 ARG-1709;
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.