Literature summary for 2.5.1.46 extracted from

Ganapathi, M.; Padgett, L.R.; Yamada, K.; Devinsky, O.; Willaert, R.; Person, R.; Au, P.B.; Tagoe, J.; McDonald, M.; Karlowicz, D.; Wolf, B.; Lee, J.; Shen, Y.; Okur, V.; Deng, L.; LeDuc, C.A.; Wang, J.; Hanner, A.; Mirmira, R.G.; Park, M.H.; Mastracci, T.L.; Chung, W.K.
Recessive rare variants in deoxyhypusine synthase, an enzyme involved in the synthesis of hypusine, are associated with a neurodevelopmental disorder (2019), Am. J. Hum. Genet., 104, 287-298 .

Application

Application	Comment	Organism
medicine	recurrent missense variant p.Asn173Ser is identified with likely gene disrupting variant (c.1014+1G>A, c.912_917delTTACAT [p.Tyr305_Ile306del]), or c.1A>G [p.Met1?] in unrelated individuals having similar neurodevelopmental features that include global developmental delay and seizures. Two of four affected females have short stature. The c.1014+1G>A variant causes aberrant splicing. Recombinant p.Asn173Ser or p.Tyr305_Ile306del protein show reduced (20%) or absent in vitro activity, respectively. The p.Tyr305_Ile306del and p.Asn173Ser variants result in reduced hypusination of eIF5A compared to wild-type DHPS enzyme	Homo sapiens

Protein Variants	Comment	Organism
N173S	recurrent missense variant identified with likely gene disrupting variant (c.1014+1G>A, c.912_917delTTACAT [p.Tyr305_Ile306del]), or c.1A>G [p.Met1] in unrelated individuals having similar neurodevelopmental features that include global developmental delay and seizures. Two of four affected females have short stature. The c.1014+1G>A variant causes aberrant splicing. Recombinant p.Asn173Ser or p.Tyr305_Ile306del protein show reduced (20%) or absent in vitro activity, respectively. The p.Tyr305_Ile306del and p.Asn173Ser variants result in reduced hypusination of eIF5A compared to wild-type DHPS enzyme	Homo sapiens

Organism	UniProt	Comment	Textmining
Homo sapiens	P49366	-	-

Synonyms	Comment	Organism
DHPS	-	Homo sapiens