The Pyridoxal 5′-Phosphate (PLP)-Dependent Enzyme Serine Palmitoyltransferase (SPT): Effects of the Small Subunits and Insights from Bacterial Mimics of Human hLCB2a HSAN1 Mutations

Table 1

Overview of currently known hLCB1 and hLCB2a HSAN1 related mutations.

Mutant	Sp SPT residue	Location in Sp SPT	Clinical features	Reference
hSPT1
C133Y	N100	Active site	Sensory neuropathy, ulceromutilations, and lancinating pains.	[29, 30]
C133W	N100	Active site	Sensory neuropathy, ulceromutilations, and lancinating pains.	[29, 30]
C133R	N100	Active site	Sensory neuropathy.	[36]
V144D	D121	Surface exposed	Sensory neuropathy, ulceromutilations, and lancinating pains.	[30]
S331F	H278	Surface exposed	Ulcerations, mental retardation, hypotonia, severe growth and mental retardation, vocal cord paralysis, and gastroesophageal reflux.	[33, 37]
S331Y	H278	Surface exposed	As S331F.	[38]
A352V	S308	Not surface exposed	Sensory neuropathy, ulceromutilations, and lancinating pains.	[33, 37]
G387A	E343	Surface exposed	No disease associated.	[40, 41]
hSPT2
V359M	V246	Not surface exposed	Sensory neuropathy, ulceromutilations.	[39]
G382V	G268	Active Site	Sensory neuropathy, ulceromutilations.	[39]
I504F	G385	Surface exposed	Sensory neuropathy, ulcerations, osteomyelitis, and anhidrosis.	[39]
A182P	T79	Not surface exposed	Sensory neuropathy.	[42]