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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O00468: Variant p.Thr1118Lys

Agrin
Gene: AGRN
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Variant information Variant position: help 1118
Type of variant: help LB/B
Residue change: help From Threonine (T) to Lysine (K) at position 1118 (T1118K, p.Thr1118Lys).
Physico-chemical properties: help Change from medium size and polar (T) to large size and basic (K)
BLOSUM score: help -1
Other resources: help


Sequence information Variant position: help 1118
Protein sequence length: help 2068
Location on the sequence: help PPVERASCYNSALGCCSDGK T PSLDAEGSNCPATKVFQGVL
Residue conservation: help 
Human                         PPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVL

Mouse                         PPIERASCYNSPLGCCSDGKTPSLDSEGSNCPATKAFQGVL

Rat                           PPIERASCYNSPLGCCSDGKTPSLDSEGSNCPATKAFQGVL

Chicken                       PAIERATCYNTPLGCCSDGKTAAADAEGSNCPATKVFQGVL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 30 – 2068 Agrin
Chain 1103 – 2068 Agrin C-terminal 110 kDa subunit
Chain 1103 – 1863 Agrin C-terminal 90 kDa fragment



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.