Results for the protein: NP

Results for the Protein: NP_001189333

320202964

501

ALDH7A1

NCBI

alpha-aminoadipic semialdehyde dehydrogenase isoform 3 [Homo sapiens]

Known Diseases associated with this Protein:
EPILEPSY, PYRIDOXINE-DEPENDENT

5

2

5

2

0

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

RefSeq Protein: NP_001189333

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ALDH_P5CDH	cd07083	1.7e-12	62	489
ALDH_PutA-P5CDH-RocA	cd07124	1.4e-18	62	489
ALDH_F16	cd07111	5e-13	64	487
ALDH_ALD2-YMR170C	cd07144	1.9e-13	72	480
ALDH_F1L_FTFDH	cd07140	3.3e-17	73	489
ALDH_AldA_AN0554	cd07143	1.3e-16	73	489
ALDH_F2BC	cd07142	3.3e-17	75	486
ALDH_F1-2_Ald2-like	cd07091	3.6e-16	76	487
ALDH_F11_NP-GAPDH	cd07082	1.9e-15	77	488
ALDH_KGSADH-YcbD	cd07097	1.5e-24	78	480
ALDH_ACDHII-AcoD	cd07116	6.4e-08	78	489
ALDH_F1AB_F2_RALDH1	cd07141	7.1e-17	78	488
PutA	COG1012	7.9e-89	78	492
ALDH_F7_AASADH-like	cd07086	1.2e-289	80	490
ALDH_PADH_NahF	cd07113	1e-13	80	489
ALDH_StaphAldA1	cd07117	5e-14	80	489
ALDH_F7_AASADH	cd07130		80	490
ALDH_ACDHII_AcoD-lik	cd07559	9.7e-15	80	489
ALDH_F6_MMSDH	cd07085	2.1e-17	82	447
ALDH_LactADH-AldA	cd07088	1.1e-21	83	487
ALDH_BADH-GbsA	cd07119	2.9e-16	83	458
ALDH_AldH-CAJ73105	cd07131	7.9e-34	83	490
ALDH_CddD_SSP0762	cd07138	2e-15	83	472
ALDH_AldA-Rv0768	cd07139	5.3e-16	83	487
ALDH_HBenzADH	cd07151	5.8e-21	84	481
ALDH_GABALDH-PuuC	cd07112	2.2e-13	90	487
ALDH_F21_LactADH-lik	cd07094	4.9e-13	93	487
ALDH_LactADH_F420-Bi	cd07145	4.5e-17	93	487
ALDH_F21_RNP123	cd07147	1.3e-16	93	470
ALDH_PhpJ	cd07146	3.2e-16	93	487
ALDH_RL0313	cd07148	2.6e-07	93	483
ALDH_y4uC	cd07149	2.6e-18	93	470
ALDH_VaniDH_like	cd07150	1.7e-19	93	487
ALDH_CddD-AldA-like	cd07089	4.6e-18	95	487
ALDH_F9_TMBADH	cd07090	7.4e-19	95	490
ALDH_F8_HMSADH	cd07093	5.1e-19	95	486
ALDH_PhdK-like	cd07107	1.6e-17	95	489
ALDH_MGR_2402	cd07108	3.7e-17	95	487
ALDH_AAS00426	cd07109	1.2e-18	95	487
ALDH_F10_BADH	cd07110	4.3e-14	95	481
ALDH_HMSADH_HapE	cd07115	2.7e-19	95	489
ALDH_DhaS	cd07114	1e-20	95	487
ALDH_PsfA-ACA09737	cd07120	2.6e-18	95	487
ALDH_F15-22	cd07098	4.4e-13	96	475
ALDH_DDALDH	cd07099	1.2e-18	96	487
ALDH_SSADH2_GabD2	cd07101	3.5e-14	96	487
ALDH_EDX86601	cd07102	8.9e-13	96	446
ALDH_ABALDH-YdcW	cd07092	3.3e-16	98	486
ALDH_F5_SSADH_GabD	cd07103	3.1e-26	98	487
ALDH_AldA-AAD23400	cd07106	5.1e-21	98	487
ALDH_SNDH	cd07118	1.5e-17	98	487
ALDH_BenzADH	cd07152	2.3e-19	101	487
ALDH_F14-YMR110C	cd07135	0.00021	109	481
ALDH_SGSD_AstD	cd07095	2.5e-14	114	475
ALDH_BenzADH-like	cd07104	2e-25	114	487
ALDH_SaliADH	cd07105	2.7e-15	114	487
ALDH_KGSADH-like	cd07084	4.1e-05	115	487
ALDH_SSADH1_GabD1	cd07100	5.1e-18	115	481
ALDH	cd07078	1.9e-115	116	487
ALDH_F3-13-14_CALDH-	cd07087	9.8e-05	116	424
ALDH_F3AB	cd07132	0.00064	116	428
ALDH-SF	cd06534	1.7e-122	120	487
Aldedh	pfam00171	4e-94	86	485

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs12514417	Polymorphism	p.LYS402GLN	N/A
dbSNP	rs2306618	Polymorphism	p.THR375ALA	N/A
OMIM	107323.0005	Disease	p.ALA198VAL	EPILEPSY, PYRIDOXINE-DEPENDENT
OMIM	107323.0002	Disease	p.ARG109TER	EPILEPSY, PYRIDOXINE-DEPENDENT
OMIM	107323.0008	Disease	p.ASN300ILE	EPILEPSY, PYRIDOXINE-DEPENDENT
OMIM	107323.0001	Disease	p.GLU1GLN	EPILEPSY, PYRIDOXINE-DEPENDENT
OMIM	107323.0007	Disease	p.TYR1TER	EPILEPSY, PYRIDOXINE-DEPENDENT

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258