Results for the protein: P30038

Results for the Protein: P30038

62511241

8659

ALDH4A1

NCBI, UniProt

AL4A1_HUMAN RecName: Full=Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial; Short=P5C dehydrogenase; AltName: Full=Aldehyde dehydrogenase family 4 member A1; AltName: Full=L-glutamate gamma-semialdehyde dehydrogenase; Flags: Precursor

Known Diseases associated with this Protein:
HYPERPROLINEMIA 2 (HP-2)
HYPERPROLINEMIA, TYPE II

2

5

1

4

2

Tips:

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Swiss-Prot Protein: P30038

Identical to: NP_733844, NP_003739

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ALDH_F4-17_P5CDH	cd07123		32	553
ALDH_PutA-P5CDH-RocA	cd07124	8.8e-73	33	551
ALDH_F16	cd07111	5.2e-14	44	549
ALDH_P5CDH	cd07083		47	551
ALDH_F1L_FTFDH	cd07140	1.1e-16	58	551
ALDH_F11_NP-GAPDH	cd07082	2.1e-15	63	529
ALDH_F6_MMSDH	cd07085	7.6e-13	64	551
ALDH_ACDHII-AcoD	cd07116	2e-13	64	554
PutA	COG1012	1.7e-107	64	554
ALDH_F7_AASADH-like	cd07086	1.7e-17	67	505
ALDH_F7_AASADH	cd07130	5.1e-11	67	477
ALDH_ACDHII_AcoD-lik	cd07559	6.7e-14	68	542
ALDH_AldA_AN0554	cd07143	3e-16	69	539
ALDH_StaphAldA1	cd07117	1.6e-12	70	542
ALDH_ALD2-YMR170C	cd07144	4.6e-11	70	527
ALDH_LactADH-AldA	cd07088	2.7e-20	71	549
ALDH_F12_P5CDH	cd07126	3.3e-06	73	551
ALDH_KGSADH-YcbD	cd07097	4.4e-20	74	538
ALDH_F1-2_Ald2-like	cd07091	3.3e-16	75	529
ALDH_F1AB_F2_RALDH1	cd07141	1.3e-14	75	540
ALDH_HBenzADH	cd07151	2.3e-17	75	531
ALDH_PADH_NahF	cd07113	1.8e-17	78	541
ALDH_F2BC	cd07142	3.3e-14	78	542
ALDH_AldH-CAJ73105	cd07131	6.3e-20	79	552
ALDH_y4uC	cd07149	3.8e-19	79	539
ALDH_F21_RNP123	cd07147	2.2e-16	80	539
ALDH_F8_HMSADH	cd07093	8.4e-18	81	538
ALDH_PhdK-like	cd07107	5e-16	81	554
ALDH_HMSADH_HapE	cd07115	1.5e-19	81	547
ALDH_F21_LactADH-lik	cd07094	3.3e-14	82	549
ALDH_DDALDH	cd07099	9.2e-16	82	549
ALDH_SSADH2_GabD2	cd07101	2e-15	82	549
ALDH_EDX86601	cd07102	1.1e-14	82	520
ALDH_MGR_2402	cd07108	5.7e-17	82	539
ALDH_F10_BADH	cd07110	1.2e-14	82	529
ALDH_GABALDH-PuuC	cd07112	9e-16	82	527
ALDH_SNDH	cd07118	5.7e-18	82	527
ALDH_BADH-GbsA	cd07119	2.2e-17	82	536
ALDH_CddD_SSP0762	cd07138	4.5e-16	82	530
ALDH_LactADH_F420-Bi	cd07145	1.3e-16	82	539
ALDH_RL0313	cd07148	2.4e-10	82	547
ALDH_AldA-Rv0768	cd07139	2.3e-11	86	528
ALDH_AldA-AAD23400	cd07106	2.5e-19	87	549
ALDH_DhaS	cd07114	2e-17	87	527
ALDH_CddD-AldA-like	cd07089	2.7e-15	88	549
ALDH_ABALDH-YdcW	cd07092	1.5e-14	88	528
ALDH_F9_TMBADH	cd07090	4.8e-19	88	529
ALDH_F5_SSADH_GabD	cd07103	7.4e-20	88	549
ALDH_AAS00426	cd07109	7e-19	88	529
ALDH_BenzADH	cd07152	2.1e-17	88	544
ALDH_F15-22	cd07098	3.7e-15	94	531
ALDH_PsfA-ACA09737	cd07120	1.5e-17	95	539
ALDH_PhpJ	cd07146	1.2e-12	96	539
ALDH_VaniDH_like	cd07150	1.3e-16	97	544
ALDH_SGSD_AstD	cd07095	9e-20	101	534
ALDH_BenzADH-like	cd07104	9.4e-22	101	544
ALDH_SaliADH	cd07105	1.1e-15	101	529
ALDH_KGSADH-like	cd07084	2e-10	102	549
ALDH_SSADH1_GabD1	cd07100	8.5e-14	102	528
ALDH	cd07078	2.4e-144	103	549
ALDH_F3-13-14_CALDH-	cd07087	2.5e-08	103	540
ALDH-SF	cd06534	2e-134	107	549
ALDH_CALDH_CalB	cd07133	1.3e-05	107	540
ALDH_AlkH-like	cd07134	2.8e-07	124	540
ALDH_F14-YMR110C	cd07135	4.8e-08	153	529
COG4230	COG4230	1.5e-11	18	563
Aldedh	pfam00171	2.8e-121	74	547

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_002259	Polymorphism	p.PRO16LEU	N/A
dbSNP	rs72953172	Polymorphism	p.PRO544LEU	N/A
Swiss-Prot	VAR_002260	Disease	p.SER352LEU	Hyperprolinemia 2 (HP-2)
dbSNP	rs6695033	Polymorphism	p.THR473ALA	N/A
dbSNP	rs72936434	Polymorphism	p.THR195MET	N/A
dbSNP	rs2230709	Polymorphism	p.VAL470ILE	N/A
OMIM	606811.0002	Disease	p.SER352LEU	HYPERPROLINEMIA, TYPE II

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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