Results for the protein: Q02252

Results for the Protein: Q02252

12643424

4329

ALDH6A1

NCBI, UniProt

MMSA_HUMAN RecName: Full=Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial; Short=MMSDH; Short=Malonate-semialdehyde dehydrogenase [acylating]; AltName: Full=Aldehyde dehydrogenase family 6 member A1; Flags: Precursor

Known Diseases associated with this Protein:
METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (MMSDHD)

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Swiss-Prot Protein: Q02252

Identical to: NP_005580

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ALDH_PutA-P5CDH-RocA	cd07124	6.8e-28	20	492
ALDH_F16	cd07111	5.9e-22	24	514
ALDH_F4-17_P5CDH	cd07123	3.9e-11	29	462
ALDH_P5CDH	cd07083	8.4e-18	30	516
ALDH_ALD2-YMR170C	cd07144	1.2e-23	32	512
ALDH_AldA_AN0554	cd07143	5.8e-27	33	516
ALDH_F1L_FTFDH	cd07140	4.8e-47	34	516
ALDH_F1AB_F2_RALDH1	cd07141	1.1e-26	34	515
ALDH_F1-2_Ald2-like	cd07091	4.3e-27	37	514
ALDH_F2BC	cd07142	5.2e-24	37	514
ALDH_F11_NP-GAPDH	cd07082	7.6e-32	39	515
ALDH_F6_MMSDH	cd07085		40	516
ALDH_KGSADH-YcbD	cd07097	7.7e-69	40	514
ALDH_ACDHII-AcoD	cd07116	1e-45	40	516
PutA	COG1012	2.8e-177	40	519
ALDH_StaphAldA1	cd07117	2.4e-33	41	516
ALDH_ACDHII_AcoD-lik	cd07559	3.1e-33	41	516
ALDH_F7_AASADH-like	cd07086	1.4e-50	42	514
ALDH_PADH_NahF	cd07113	2.9e-28	42	516
ALDH_F7_AASADH	cd07130	6.8e-20	42	476
ALDH_AldH-CAJ73105	cd07131	4e-75	42	517
ALDH_CddD_SSP0762	cd07138	6e-33	42	514
ALDH_AldA-Rv0768	cd07139	2.8e-25	42	514
ALDH_LactADH-AldA	cd07088	5.6e-46	43	514
ALDH_BADH-GbsA	cd07119	5.5e-28	43	482
ALDH_F12_P5CDH	cd07126	8.7e-06	43	467
ALDH_HBenzADH	cd07151	4.2e-25	46	516
ALDH_GABALDH-PuuC	cd07112	4.9e-23	54	514
ALDH_F21_LactADH-lik	cd07094	3e-39	57	514
ALDH_LactADH_F420-Bi	cd07145	1.4e-26	57	514
ALDH_PhpJ	cd07146	5.6e-22	57	514
ALDH_F21_RNP123	cd07147	5.2e-22	57	514
ALDH_y4uC	cd07149	2.2e-26	57	514
ALDH_VaniDH_like	cd07150	1.3e-33	57	514
ALDH_RL0313	cd07148	1.5e-12	57	514
ALDH_CddD-AldA-like	cd07089	7.9e-23	59	514
ALDH_F9_TMBADH	cd07090	1.6e-29	59	517
ALDH_ABALDH-YdcW	cd07092	1.9e-23	59	514
ALDH_F8_HMSADH	cd07093	1.1e-43	59	514
ALDH_F5_SSADH_GabD	cd07103	7.5e-50	59	514
ALDH_AldA-AAD23400	cd07106	1.1e-31	59	514
ALDH_PhdK-like	cd07107	9.8e-24	59	475
ALDH_MGR_2402	cd07108	4.1e-25	59	514
ALDH_F10_BADH	cd07110	3.2e-22	59	514
ALDH_HMSADH_HapE	cd07115	8.7e-36	59	516
ALDH_DhaS	cd07114	9.1e-26	59	514
ALDH_AAS00426	cd07109	5.8e-30	59	514
ALDH_F15-22	cd07098	8.7e-22	60	516
ALDH_SSADH2_GabD2	cd07101	5.1e-18	60	514
ALDH_EDX86601	cd07102	3.2e-18	60	514
ALDH_DDALDH	cd07099	2.3e-22	60	514
ALDH_SNDH	cd07118	7.9e-29	60	514
ALDH_PsfA-ACA09737	cd07120	3.4e-23	61	514
ALDH_BenzADH	cd07152	4.7e-25	65	514
ALDH_F3FHI	cd07137	2.9e-08	71	514
ALDH_F14-YMR110C	cd07135	1.7e-09	73	492
ALDH_BenzADH-like	cd07104	3e-32	78	514
ALDH_SaliADH	cd07105	4.6e-25	78	514
ALDH_SGSD_AstD	cd07095	1.2e-22	78	484
ALDH_KGSADH-like	cd07084	8.6e-09	79	514
ALDH_SSADH1_GabD1	cd07100	9.8e-25	79	473
ALDH_KGSADH	cd07129	2.7e-05	79	472
ALDH	cd07078	4.2e-126	80	514
ALDH_F3-13-14_CALDH-	cd07087	2.1e-11	80	492
ALDH_F3AB	cd07132	2.9e-06	80	444
ALDH_CALDH_CalB	cd07133	3.6e-09	80	492
ALDH_AlkH-like	cd07134	3.4e-09	80	492
ALDH_YwdH-P39616	cd07136	0.00029	80	493
ALDH-SF	cd06534	5.8e-120	84	514
COG4230	COG4230	4.5e-05	3	534
Aldedh	pfam00171	3.4e-175	48	512

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_010244	Disease	p.GLY446ARG	Methylmalonate semialdehyde dehydrogenase deficiency (MMSDHD)
OMIM	603178.0001	Disease	p.GLY446ARG	METHYLMALONATE 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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