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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P78504: Variant p.Leu79His

Protein jagged-1
Gene: JAG1
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Variant information Variant position: help 79
Type of variant: help LP/P [Disclaimer]
Residue change: help From Leucine (L) to Histidine (H) at position 79 (L79H, p.Leu79His).
Physico-chemical properties: help Change from medium size and hydrophobic (L) to medium size and polar (H)
BLOSUM score: help -3
Variant description: help In ALGS1.


Sequence information Variant position: help 79
Protein sequence length: help 1218
Location on the sequence: help RNPGDRKCTRDECDTYFKVC L KEYQSRVTAGGPCSFGSGST
Residue conservation: help 
Human                         RNPGDRKCTRDECDTYFKVCLKEYQSRVTAGGPCSFGSGST

Mouse                         RNPGDRKCTRDECDTYFKVCLKEYQSRVTAGGPCSFGSGST

Rat                           RNPGDRKCTRDECDTYFKVCLKEYQSRVTAGGPCSFGSGST
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 34 – 1218 Protein jagged-1
Topological domain 34 – 1067 Extracellular
Alternative sequence 1 – 159 Missing. In isoform 2.
Beta strand 73 – 81



Literature citations
Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome.
Crosnier C.; Driancourt C.; Raynaud N.; Dhorne-Pollet S.; Pollet N.; Bernard O.; Hadchouel M.; Meunier-Rotival M.;
Gastroenterology 116:1141-1148(1999)
Cited for: VARIANTS ALGS1 HIS-79; THR-127; ARG-129; LEU-163; GLY-184; SER-187; GLY-229; PHE-284; CYS-288; PHE-438; SER-731 AND ARG-740;
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.