Protein-losing enteropathy and multiple vasculature dysplasia in LZTR1-related Noonan syndrome: A case report and review of literature

Table 2 Details of genetic variance c.850C>T:p.R284C in leucine zipper-like transcription regulator 1

Item	Information
Gene name	LZTR1 (leucine zipper-like transcription regulator 1)
Identifiers	NM_006767.4 (LZTR1): c.850C>T(p.Arg284Cys)
Sequence	CCCGCAGCGG[C/T]GCTACGGGCA
Amino acids change	ENSG00000099949: ENST00000215739 exon9: c.850C>T:p.R284C (Arginine→Cysteine) (based on Ensembl gene)
Molecular consequence	Missense
Type and length	Single nucleotide variant, 1 bp
Location	Cytogenetic: 22q11.21 22: 20991686 (GRCh38) [NCBI UCSC]
DbSNP	Rs797045165
Clinical significance	Pathogenic (ClinVar)
Damaging score	0.91 (D:A algorithms, 21:23)
Phneotype	Noonan syndrome 10
Allele frequency in population	Not available in east Asian (gnomAD_genome, ExAC and ExAC_nontcga dataset)
In silico missense prediction
Algorithm	Prediction
SIFT	Damaging
Polyphen-2_HDIV	Probably_damaging
Polyphen-2_HVAR	Probably_damaging
LRT	Deleterious
MutationTaster	Disease_causing
MutationAssessor	High
FATHMM	Damaging
PROVEAN	Damaging
VEST3	Damaging
MetaSVM	Damaging
MetaLR	Damaging
M-CAP	Damaging
CADD	Damaging
DANN	Damaging
FATHMM_MKL	Damaging
Eigen	Damaging
GenoCanyon	Tolerable
FitCons	Damaging
GERP++	Conserved
PhyloP	Conserved
PhastCons	Nonconserved
SiPhy	Conserved
REVEL	Damaging
ReVe	Pathogenic
ClinPred	Pathogenic

LZTR1: Leucine zipper-like transcription regulator 1.