Results for the protein: P51649

Results for the Protein: P51649

7531278

7915

ALDH5A1

NCBI, UniProt

SSDH_HUMAN RecName: Full=Succinate-semialdehyde dehydrogenase, mitochondrial; AltName: Full=Aldehyde dehydrogenase family 5 member A1; AltName: Full=NAD(+)-dependent succinic semialdehyde dehydrogenase; Flags: Precursor

Known Diseases associated with this Protein:
SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (SSADHD)

15

6

3

3

15

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Swiss-Prot Protein: P51649

Identical to: NP_001071

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ALDH_F16	cd07111	1.1e-66	36	532
ALDH_F4-17_P5CDH	cd07123	2.1e-06	39	498
ALDH_PutA-P5CDH-RocA	cd07124	1.5e-31	41	534
ALDH_P5CDH	cd07083	5.4e-29	50	534
ALDH_F1AB_F2_RALDH1	cd07141	3.5e-71	55	533
ALDH_AldA_AN0554	cd07143	4e-60	55	534
ALDH_F1L_FTFDH	cd07140	5.8e-101	56	534
ALDH_F1-2_Ald2-like	cd07091	5.4e-115	58	532
ALDH_F2BC	cd07142	8.2e-81	58	532
ALDH_F11_NP-GAPDH	cd07082	1.5e-46	60	533
ALDH_F6_MMSDH	cd07085	7.5e-32	61	519
ALDH_KGSADH-YcbD	cd07097	9.5e-93	61	530
ALDH_MaoC-N	cd07128	1.1e-07	61	483
PutA	COG1012	9.1e-228	61	535
ALDH_ACDHII-AcoD	cd07116	3.8e-79	62	532
ALDH_ACDHII_AcoD-lik	cd07559	3.8e-83	62	532
ALDH_F7_AASADH-like	cd07086	6.5e-60	63	533
ALDH_F12_P5CDH	cd07126	0.00018	63	511
ALDH_F7_AASADH	cd07130	1.5e-21	63	520
ALDH_AldH-CAJ73105	cd07131	6.1e-87	63	533
ALDH_CddD_SSP0762	cd07138	6.4e-100	63	532
ALDH_AldA-Rv0768	cd07139	2.5e-90	63	532
ALDH_LactADH-AldA	cd07088	7.1e-142	64	532
ALDH_PADH_NahF	cd07113	3e-56	64	532
ALDH_StaphAldA1	cd07117	3.5e-76	64	532
ALDH_BADH-GbsA	cd07119	1.2e-85	64	529
ALDH_ALD2-YMR170C	cd07144	9.1e-50	64	530
ALDH_HBenzADH	cd07151	5.6e-48	67	530
ALDH_GABALDH-PuuC	cd07112	6.4e-87	73	532
ALDH_F21_LactADH-lik	cd07094	2.8e-113	76	532
ALDH_LactADH_F420-Bi	cd07145	1.1e-121	76	532
ALDH_PhpJ	cd07146	1.1e-63	76	531
ALDH_F21_RNP123	cd07147	9e-84	76	532
ALDH_RL0313	cd07148	6.3e-21	76	532
ALDH_y4uC	cd07149	1.3e-98	76	532
ALDH_VaniDH_like	cd07150	3.3e-131	76	532
ALDH_CddD-AldA-like	cd07089	1.8e-115	78	532
ALDH_F9_TMBADH	cd07090	2.3e-76	78	533
ALDH_ABALDH-YdcW	cd07092	2.2e-89	78	532
ALDH_F8_HMSADH	cd07093	5.8e-126	78	532
ALDH_F5_SSADH_GabD	cd07103		78	532
ALDH_AldA-AAD23400	cd07106	7.3e-96	78	532
ALDH_PhdK-like	cd07107	7.5e-51	78	532
ALDH_F10_BADH	cd07110	1.8e-100	78	532
ALDH_AAS00426	cd07109	3.6e-87	78	532
ALDH_MGR_2402	cd07108	6.3e-58	78	532
ALDH_HMSADH_HapE	cd07115	7e-102	78	534
ALDH_DhaS	cd07114	2.5e-118	78	532
ALDH_F15-22	cd07098	3.6e-45	79	523
ALDH_DDALDH	cd07099	2e-94	79	532
ALDH_SSADH2_GabD2	cd07101	3.3e-40	79	532
ALDH_PsfA-ACA09737	cd07120	3.1e-80	80	532
ALDH_EDX86601	cd07102	4.6e-36	81	530
ALDH_SNDH	cd07118	2.8e-98	81	532
ALDH_BenzADH	cd07152	3.4e-67	84	532
ALDH_F14-YMR110C	cd07135	2.2e-22	95	526
ALDH_SGSD_AstD	cd07095	3.7e-27	97	522
ALDH_SaliADH	cd07105	5.4e-87	97	532
ALDH_BenzADH-like	cd07104	1.1e-124	97	532
ALDH_KGSADH-like	cd07084	8.7e-10	98	532
ALDH_SSADH1_GabD1	cd07100	3.2e-101	98	532
ALDH_KGSADH	cd07129	5.9e-12	98	493
ALDH_F3FHI	cd07137	5.4e-14	98	532
ALDH	cd07078	1.6e-205	99	532
ALDH_F3-13-14_CALDH-	cd07087	7.8e-21	99	532
ALDH_F3AB	cd07132	4.2e-17	99	533
ALDH_AlkH-like	cd07134	1.6e-25	99	526
ALDH_YwdH-P39616	cd07136	1.9e-15	100	528
ALDH-SF	cd06534	3.2e-183	103	532
ALDH_CALDH_CalB	cd07133	3.6e-22	103	517
COG4230	COG4230	4.2e-09	8	533
Aldedh	pfam00171	1.5e-214	69	530

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_026228	Polymorphism	p.ALA237SER	N/A
Swiss-Prot	VAR_026205	Disease	p.ASN335LYS	Succinic semialdehyde dehydrogenase deficiency (SSADHD)
Swiss-Prot	VAR_026203	Disease	p.ASN255SER	Succinic semialdehyde dehydrogenase deficiency (SSADHD)
Swiss-Prot	VAR_069047	Polymorphism	p.ASN372SER	N/A
Swiss-Prot	VAR_026199	Disease	p.CYS93PHE	Succinic semialdehyde dehydrogenase deficiency (SSADHD)
Swiss-Prot	VAR_026201	Disease	p.CYS223TYR	Succinic semialdehyde dehydrogenase deficiency (SSADHD)
Swiss-Prot	VAR_026200	Disease	p.GLY176ARG	Succinic semialdehyde dehydrogenase deficiency (SSADHD)
dbSNP	rs4646832	Polymorphism	p.GLY36ARG	N/A
Swiss-Prot	VAR_026210	Disease	p.GLY533ARG	Succinic semialdehyde dehydrogenase deficiency (SSADHD)
Swiss-Prot	VAR_026208	Disease	p.GLY409ASP	Succinic semialdehyde dehydrogenase deficiency (SSADHD)
Swiss-Prot	VAR_026204	Disease	p.GLY268GLU	Succinic semialdehyde dehydrogenase deficiency (SSADHD)
dbSNP	rs2760118	Polymorphism	p.HIS180TYR	N/A
Swiss-Prot	VAR_026207	Disease	p.PRO382GLN	Succinic semialdehyde dehydrogenase deficiency (SSADHD)
dbSNP	rs3765310	Polymorphism	p.PRO182LEU	N/A
Swiss-Prot	VAR_026206	Disease	p.PRO382LEU	Succinic semialdehyde dehydrogenase deficiency (SSADHD)
Swiss-Prot	VAR_026202	Disease	p.THR233MET	Succinic semialdehyde dehydrogenase deficiency (SSADHD)
Swiss-Prot	VAR_026209	Disease	p.VAL487GLU	Succinic semialdehyde dehydrogenase deficiency (SSADHD)
Swiss-Prot	VAR_026229	Polymorphism	p.VAL406ILE	N/A
OMIM	610045.0004	Disease	p.ARG399TER	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
OMIM	610045.0005	Disease	p.GLY396ASP	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
OMIM	610045.0003	Disease	p.TRP204TER	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY

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.

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