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UniProtKB/Swiss-Prot O00468: Variant p.Glu728Val

Agrin
Gene: AGRN
Variant information

Variant position:  728
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LB/B
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:  From Glutamate (E) to Valine (V) at position 728 (E728V, p.Glu728Val).
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:  Change from medium size and acidic (E) to medium size and hydrophobic (V)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  728
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  2068
The length of the canonical sequence.

Location on the sequence:   SCQSVPGSPVCGSDGVTYST  E CELKKARCESQRGLYVAAQG
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: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         SCQSVPGSPVCGSDGVTYSTECELKKARCESQRGLYVAAQG

Mouse                         SCQSVLKSPVCGSDGVTYSTECHLKKARCEARQELYVAAQG

Rat                           SCQSVPRSPVCGSDGVTYGTECDLKKARCESQQELYVAAQG

Chicken                       TCLAVPRSPVCGSDDVTYANECELKKTRCEKRQNLYVTSQG

Sequence annotation in neighborhood:  
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 30 – 1102 Agrin N-terminal 110 kDa subunit
Domain 699 – 752 Kazal-like 8
Disulfide bond 705 – 736
Disulfide bond 709 – 729
Disulfide bond 718 – 750


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.