JMA Journal

Table 1. The Patient’s Clinical Findings and Laboratory Data on an Initial Medical Examination.

From: A Novel Missense MEN1 Mutation in a Sporadic Case of Multiple Endocrine Neoplasia Type 1 Complicated with Papillary Thyroid Carcinoma

	This case	Normal range
SBP/DBP (mmHg)	106/68	130/80
BMI (kg/m²)	19.3	18.5-25
FPG (mg/dL)	85	73-109
ALP (IU/L)	695	106-322
Na (mmol/L)	139	138-145
K (mmol/L)	4.4	3.6-4.8
Ca (mg/dL)	12.5	8.8-10.1
P (mg/dL)	2.2	2.7-4.6
Mg (mg/dL)	2.3	1.7-2.5
FECa (%)	0.67	<1.0
Intact-PTH (pg/mL)	496	10-65
ACTH (pg/mL)	52.1	7.2-63.3
F (μg/dL)	12.1	6.24-18.0
TSH (μU/mL)	1.17	0.45-3.33
FT3 (pg/mL)	2.37	2.11-3.51
FT4 (ng/dL)	1.09	0.84-1.44
GH (ng/mL)	0.7	<2.1
IGF-1 (ng/mL)	188	133-312
PRL (ng/mL)	11.3	3.12-15.39
LH (mIU/mL)	7.6	0.5-68.7
FSH (mIU/mL)	7.3	1.5-20.6
C-peptide (ng/mL)	1.51	1.1-3.3
Insulin (μU/mL)	7.9	<16
Gastrin (pg/mL)	95	<200
Glucagon (pg/mL)	208	70-174
Thyroglobulin (ng/mL)	106	<33.7
25-hydroxyvitamin D (ng/mL)	9.9	>20

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Table 2. Reported Substitutions of Arginine at Codon 98 of the MEN1 Protein and Their Predictions of Functional Effects.

From: A Novel Missense MEN1 Mutation in a Sporadic Case of Multiple Endocrine Neoplasia Type 1 Complicated with Papillary Thyroid Carcinoma

Nucleotide change (amino acid change)	Source	PolyPhen2 (Score/prediction)	PROVEAN (Score/prediction)
c.293G>C (p.R98P)	This case	0.995/probably damaging	-4.805/deleterious
c.293G>A (p.R98Q)	ClinVar	0.743/possibly damaging	-2.341/neutral
c.293G>T (p.R98L)	Article (1)	0.966/probably damaging	-4.889/deleterious

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