Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O75112: Variant p.Thr206Ile

LIM domain-binding protein 3
Gene: LDB3
Feedback?
Variant information Variant position: help 206
Type of variant: help LP/P [Disclaimer]
Residue change: help From Threonine (T) to Isoleucine (I) at position 206 (T206I, p.Thr206Ile).
Physico-chemical properties: help Change from medium size and polar (T) to medium size and hydrophobic (I)
BLOSUM score: help -1
Variant description: help In CMD1C.
Other resources: help


Sequence information Variant position: help 206
Protein sequence length: help 727
Location on the sequence: help LPGSSQPRQYNNPIGLYSAE T LREMAQMYQMSLRGKASGVG
Residue conservation: help 
Human                         LPGSSQPRQYNNPIGLYSAETLREMAQMYQMSLRGKASGVG

Mouse                         LPGPSQPRQYNNPIGLYSAETLREMAQMYQMSLRGKASGAG
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 727 LIM domain-binding protein 3
Modified residue 217 – 217 Phosphoserine
Modified residue 219 – 219 Omega-N-methylarginine
Modified residue 223 – 223 Phosphoserine
Alternative sequence 108 – 364 Missing. In isoform 3.
Alternative sequence 108 – 229 DPALDTNGSLVAPSPSPEARASPGTPGTPELRPTFSPAFSRPSAFSSLAEASDPGPPRASLRAKTSPEGARDLLGPKALPGSSQPRQYNNPIGLYSAETLREMAQMYQMSLRGKASGVGLPG -> VVVNSPANADYQERFNPSALKDSALSTHKPIEVKGLGGKATIIHAQYNTPISMYSQDAIMDAIAGQAQAQGSDFS. In isoform 2 and isoform 6.



Literature citations
Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction.
Vatta M.; Mohapatra B.; Jimenez S.; Sanchez X.; Faulkner G.; Perles Z.; Sinagra G.; Lin J.-H.; Vu T.M.; Zhou Q.; Bowles K.R.; Di Lenarda A.; Schimmenti L.; Fox M.; Chrisco M.A.; Murphy R.T.; McKenna W.; Elliott P.; Bowles N.E.; Chen J.; Valle G.; Towbin J.A.;
J. Am. Coll. Cardiol. 42:2014-2027(2003)
Cited for: VARIANTS CMD1C LEU-189; ILE-206 AND MET-345; VARIANTS CMD1C ASN-117 AND MET-136 (ISOFORMS 2 AND 4);
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.