Results for the protein: Q13231

Results for the Protein: Q13231

37999493

1118

CHIT1

NCBI, UniProt

CHIT1_HUMAN RecName: Full=Chitotriosidase-1; AltName: Full=Chitinase-1; Flags: Precursor

Known Diseases associated with this Protein:
CHITOTRIOSIDASE DEFICIENCY

2

8

2

5

3

Tips:

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Identical to: NP_003456

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
GH18_CFLE_spore_hydr	cd02874	8.7e-10	21	371
GH18_chitinase_D-lik	cd02871	1.2e-05	22	301
GH18_IDGF	cd02873	7e-26	23	385
GH18_zymocin_alpha	cd02878	4.4e-14	23	363
GH18_chitinase-like	cd00598	6.1e-128	24	363
GH18_chitolectin_chi	cd02872	4.8e-260	24	385
GH18_3CO4_chitinase	cd06545	8.8e-07	24	381
GH18_chitinase	cd06548	7.5e-102	24	363
GH18_plant_chitinase	cd02879	1.1e-63	29	369
ChiA	COG3325	2.4e-43	1	392
Glyco_hydro_18	pfam00704	2.4e-157	22	363
CBM_14	pfam01607	1.6e-06	420	466
Glyco_18	smart00636	3e-167	23	363
ChtBD2	smart00494	2.2e-09	418	466

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_024458	Polymorphism	p.ALA442GLY	N/A
dbSNP	rs1065761	Polymorphism	p.ALA442VAL	N/A
dbSNP	rs35920428	Polymorphism	p.ARG40HIS	N/A
Swiss-Prot	VAR_049191	Polymorphism	p.GLN171HIS	N/A
Swiss-Prot	VAR_065914	Polymorphism	p.GLU74LYS	N/A
dbSNP	rs9943208	Polymorphism	p.GLY354ARG	N/A
dbSNP	rs2297950	Polymorphism	p.GLY102SER	N/A
dbSNP	rs61745299	Polymorphism	p.THR255SER	N/A
OMIM	600031.0003	Disease	p.GLU74LYS	CHITOTRIOSIDASE DEFICIENCY
OMIM	600031.0004	Disease	p.GLY102SER	CHITOTRIOSIDASE DEFICIENCY

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