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HAX1base
Variation registry for Severe congenital neutropenia (Kostmann disease)

Nucleotide substitutions - HAX1base

Purines/Pyrimidines
	Purines		Pyrimidines
-->	A	G	C	T	Total
A	0	0	0	0	0
G	1	0	0	0	1
C	0	0	0	17	17
T	0	5	4	0	9
Total	1	5	4	17	27

Amino/Keto
	Amino		Keto
-->	A	C	G	T	Total
A	0	0	0	0	0
C	0	0	0	17	17
G	1	0	0	0	1
T	0	4	5	0	9
Total	1	4	5	17	27

Weak/Strong
	Weak		Strong
-->	A	T	C	G	Total
A	0	0	0	0	0
T	0	0	4	5	9
C	0	17	0	0	17
G	1	0	0	0	1
Total	1	17	4	5	27

Purines/Pyrimidines (%)
	Purines		Pyrimidines
-->	A	G	C	T	Total
A	0.0	0.0	0.0	0.0	0.0
G	3.7	0.0	0.0	0.0	3.7
C	0.0	0.0	0.0	63.0	63.0
T	0.0	18.5	14.8	0.0	33.3
Total	3.7	18.5	14.8	63.0	100.0

Amino/Keto (%)
	Amino		Keto
-->	A	C	G	T	Total
A	0.0	0.0	0.0	0.0	0.0
C	0.0	0.0	0.0	63.0	63.0
G	3.7	0.0	0.0	0.0	3.7
T	0.0	14.8	18.5	0.0	33.3
Total	3.7	14.8	18.5	63.0	100.0

Weak/Strong (%)
	Weak		Strong
-->	A	T	C	G	Total
A	0.0	0.0	0.0	0.0	0.0
T	0.0	0.0	14.8	18.5	33.3
C	0.0	63.0	0.0	0.0	63.0
G	3.7	0.0	0.0	0.0	3.7
Total	3.7	63.0	14.8	18.5	100.0

Transitions and Transversions
-->	Purine	Pyrimidine
Purine	1	0
Pyrimidine	5	21

Transitions and Transversions (%)
-->	Purine	Pyrimidine
Purine	3.7	0.0
Pyrimidine	18.5	77.8

This site is updated by Gerard Schaafsma
© Protein Structure and Bioinformatics, Lund University, 2017
Last modified 02.03.2025