Bork Group Sunyaev Lab
PolyPhen report
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refSNP Predictions found for proteins:
rs1800562 21040341
21040343
21040347
21040349
21040351
21040353
21040355
Q30201

 
Query
Acc number Position AA1 AA2 Description
21040341 176 C Y .1| hemochromatosis protein isoform 3 precursor; hereditary haemochromatosis protein [Homo sapiens]

Prediction
This variant is predicted to be probably damaging
Prediction Available data Prediction basis Substitution effect Prediction data
probably
damaging
FT
alignment
alignment N/A PSIC score difference: 2.943

Details
PSIC profile scores for two amino acid variants
Score1 Score2 |Score1-Score2| Observations Diagnostics Multiple alignment around substitution position
+2.415 -0.528 2.943 9 precomputed Sequences:  Flanks:  
Mapping of the substitution site to known protein 3D structures
Database Initial number of structures Number of structures
PQS 709 0

 

 
Query
Acc number Position AA1 AA2 Description
21040343 190 C Y .1| hemochromatosis protein isoform 4 precursor; hereditary haemochromatosis protein [Homo sapiens] >gi|15485423|emb|CAC67794 .1| hemochromatosis protein [Homo sapiens]

Prediction
This variant is predicted to be probably damaging
Prediction Available data Prediction basis Substitution effect Prediction data
probably
damaging
FT
alignment
alignment N/A PSIC score difference: 2.475

Details
PSIC profile scores for two amino acid variants
Score1 Score2 |Score1-Score2| Observations Diagnostics Multiple alignment around substitution position
+2.025 -0.450 2.475 7 precomputed Sequences:  Flanks:  
Mapping of the substitution site to known protein 3D structures
Database Initial number of structures Number of structures
PQS 713 0

 

 
Query
Acc number Position AA1 AA2 Description
21040347 268 C Y .1| hemochromatosis protein isoform 6 precursor; hereditary haemochromatosis protein [Homo sapiens] >gi|3695107|gb|AAC62646 .1| hemochromatosis splice variant del14E4 [Homo sapiens]

Prediction
This variant is predicted to be probably damaging
Prediction Available data Prediction basis Substitution effect Prediction data
probably
damaging
FT
alignment
structure
alignment N/A PSIC score difference: 2.943
Remarks
Hydrophobicity change at buried site; normed accessibility: 0.00, hydrophobicity change: 1.37
Overpacking at buried site; normed accessibility: 0.00, volume change: 85

Details
PSIC profile scores for two amino acid variants
Score1 Score2 |Score1-Score2| Observations Diagnostics Multiple alignment around substitution position
+2.415 -0.528 2.943 16 precomputed Sequences:  Flanks:  
Mapping of the substitution site to known protein 3D structures
Database Initial number of structures Number of structures
PQS 500 8

Num ID   Res AA E-value Len Ide Gaps Params Cont PDB TITLE
1 1de4_2 G 260 C 9.2e-156 272 1.00 14 Params   RECEPTOR
2 1de4_2 B 260 C 9.2e-156 272 1.00 14     RECEPTOR
3 1de4_1 K 260 C 9.2e-156 272 1.00 14     RECEPTOR
4 1de4_1 G 260 C 9.2e-156 272 1.00 14     RECEPTOR
5 1de4_1 D 260 C 9.2e-156 272 1.00 14     RECEPTOR
6 1de4_1 A 260 C 9.2e-156 272 1.00 14     RECEPTOR
7 1a6z_2 C 260 C 9.2e-156 272 1.00 14     HFE (HUMAN) HEMOCHROMATOSIS PROTEIN
8 1a6z_1 A 260 C 9.2e-156 272 1.00 14     HFE (HUMAN) HEMOCHROMATOSIS PROTEIN

Structural parameters
Num ID   Res SecStr Acc Acc Normed dPropens (Phi, Psi) Map Region dVol Normed B-factor
1 1de4_2 G 260 E 0 0.00 1.37 (-120.2, 123.8) B 85 0.73

 

 
Query
Acc number Position AA1 AA2 Description
21040349 194 C Y .1| hemochromatosis protein isoform 7 precursor; hereditary haemochromatosis protein [Homo sapiens] >gi|3695109|gb|AAC62647 .1| hemochromatosis splice variant delE2 [Homo sapiens] >gi|15485421|emb|CAC67793 .1| hemochromatosis protein [Homo sapiens]

Prediction
This variant is predicted to be probably damaging
Prediction Available data Prediction basis Substitution effect Prediction data
probably
damaging
FT
alignment
structure
alignment N/A PSIC score difference: 3.185
Remarks
Hydrophobicity change at buried site; normed accessibility: 0.00, hydrophobicity change: 1.37
Overpacking at buried site; normed accessibility: 0.00, volume change: 85

Details
PSIC profile scores for two amino acid variants
Score1 Score2 |Score1-Score2| Observations Diagnostics Multiple alignment around substitution position
+2.603 -0.582 3.185 22 precomputed Sequences:  Flanks:  
Mapping of the substitution site to known protein 3D structures
Database Initial number of structures Number of structures
PQS 504 8

Num ID   Res AA E-value Len Ide Gaps Params Cont PDB TITLE
1 1de4_2 G 260 C 2.2e-111 184 0.99 Params   RECEPTOR
2 1de4_2 B 260 C 2.2e-111 184 0.99     RECEPTOR
3 1de4_1 K 260 C 2.2e-111 184 0.99     RECEPTOR
4 1de4_1 G 260 C 2.2e-111 184 0.99     RECEPTOR
5 1de4_1 D 260 C 2.2e-111 184 0.99     RECEPTOR
6 1de4_1 A 260 C 2.2e-111 184 0.99     RECEPTOR
7 1a6z_2 C 260 C 2.2e-111 184 0.99     HFE (HUMAN) HEMOCHROMATOSIS PROTEIN
8 1a6z_1 A 260 C 2.2e-111 184 0.99     HFE (HUMAN) HEMOCHROMATOSIS PROTEIN

Structural parameters
Num ID   Res SecStr Acc Acc Normed dPropens (Phi, Psi) Map Region dVol Normed B-factor
1 1de4_2 G 260 E 0 0.00 1.37 (-120.2, 123.8) B 85 0.73

 

 
Query
Acc number Position AA1 AA2 Description
21040351 180 C Y .1| hemochromatosis protein isoform 8 precursor; hereditary haemochromatosis protein [Homo sapiens] >gi|3695111|gb|AAC62648 .1| hemochromatosis splice variant delE214E4 [Homo sapiens]

Prediction
This variant is predicted to be probably damaging
Prediction Available data Prediction basis Substitution effect Prediction data
probably
damaging
FT
alignment
structure
alignment N/A PSIC score difference: 3.185
Remarks
Hydrophobicity change at buried site; normed accessibility: 0.00, hydrophobicity change: 1.37
Overpacking at buried site; normed accessibility: 0.00, volume change: 85

Details
PSIC profile scores for two amino acid variants
Score1 Score2 |Score1-Score2| Observations Diagnostics Multiple alignment around substitution position
+2.603 -0.582 3.185 22 precomputed Sequences:  Flanks:  
Mapping of the substitution site to known protein 3D structures
Database Initial number of structures Number of structures
PQS 500 8

Num ID   Res AA E-value Len Ide Gaps Params Cont PDB TITLE
1 1de4_2 G 260 C 4.7e-100 184 0.99 14 Params   RECEPTOR
2 1de4_2 B 260 C 4.7e-100 184 0.99 14     RECEPTOR
3 1de4_1 K 260 C 4.7e-100 184 0.99 14     RECEPTOR
4 1de4_1 G 260 C 4.7e-100 184 0.99 14     RECEPTOR
5 1de4_1 D 260 C 4.7e-100 184 0.99 14     RECEPTOR
6 1de4_1 A 260 C 4.7e-100 184 0.99 14     RECEPTOR
7 1a6z_2 C 260 C 4.7e-100 184 0.99 14     HFE (HUMAN) HEMOCHROMATOSIS PROTEIN
8 1a6z_1 A 260 C 4.7e-100 184 0.99 14     HFE (HUMAN) HEMOCHROMATOSIS PROTEIN

Structural parameters
Num ID   Res SecStr Acc Acc Normed dPropens (Phi, Psi) Map Region dVol Normed B-factor
1 1de4_2 G 260 E 0 0.00 1.37 (-120.2, 123.8) B 85 0.73

 

 
Query
Acc number Position AA1 AA2 Description
21040353 259 C Y .1| hemochromatosis protein isoform 9 precursor; hereditary haemochromatosis protein [Homo sapiens] >gi|15485419|emb|CAC67792 .1| hemochromatosis protein [Homo sapiens]

Prediction
This variant is predicted to be probably damaging
Prediction Available data Prediction basis Substitution effect Prediction data
probably
damaging
FT
alignment
structure
alignment N/A PSIC score difference: 2.943
Remarks
Hydrophobicity change at buried site; normed accessibility: 0.00, hydrophobicity change: 1.37
Overpacking at buried site; normed accessibility: 0.00, volume change: 85

Details
PSIC profile scores for two amino acid variants
Score1 Score2 |Score1-Score2| Observations Diagnostics Multiple alignment around substitution position
+2.415 -0.528 2.943 18 precomputed Sequences:  Flanks:  
Mapping of the substitution site to known protein 3D structures
Database Initial number of structures Number of structures
PQS 504 8

Num ID   Res AA E-value Len Ide Gaps Params Cont PDB TITLE
1 1de4_2 G 260 C 5.4e-153 248 1.00 Params   RECEPTOR
2 1de4_2 B 260 C 5.4e-153 248 1.00     RECEPTOR
3 1de4_1 K 260 C 5.4e-153 248 1.00     RECEPTOR
4 1de4_1 G 260 C 5.4e-153 248 1.00     RECEPTOR
5 1de4_1 D 260 C 5.4e-153 248 1.00     RECEPTOR
6 1de4_1 A 260 C 5.4e-153 248 1.00     RECEPTOR
7 1a6z_2 C 260 C 5.4e-153 248 1.00     HFE (HUMAN) HEMOCHROMATOSIS PROTEIN
8 1a6z_1 A 260 C 5.4e-153 248 1.00     HFE (HUMAN) HEMOCHROMATOSIS PROTEIN

Structural parameters
Num ID   Res SecStr Acc Acc Normed dPropens (Phi, Psi) Map Region dVol Normed B-factor
1 1de4_2 G 260 E 0 0.00 1.37 (-120.2, 123.8) B 85 0.73

 

 
Query
Acc number Position AA1 AA2 Description
21040355 102 C Y .1| hemochromatosis protein isoform 10 precursor; hereditary haemochromatosis protein [Homo sapiens] >gi|16751451|emb|CAC80805 .1| Hemochromatosis protein [Homo sapiens]

Prediction
This variant is predicted to be probably damaging
Prediction Available data Prediction basis Substitution effect Prediction data
probably
damaging
FT
alignment
alignment N/A PSIC score difference: 2.943

Details
PSIC profile scores for two amino acid variants
Score1 Score2 |Score1-Score2| Observations Diagnostics Multiple alignment around substitution position
+2.415 -0.528 2.943 26 precomputed Sequences:  Flanks:  
Mapping of the substitution site to known protein 3D structures
Database Initial number of structures Number of structures
PQS 500 0

 

 
Query
Acc number Position AA1 AA2 Description
Q30201 282 C Y Hereditary hemochromatosis protein precursor (HLA-H). LENGTH: 348 AA

Prediction
This variant is predicted to be probably damaging
Prediction Available data Prediction basis Substitution effect Prediction data
probably
damaging
FT
alignment
structure
sequence annotation 1.2: structural effect, bond formation
Disruption of annotated bond formation site
site type: DISULFID
Remarks
Hydrophobicity change at buried site; normed accessibility: 0.00, hydrophobicity change: 1.37
Overpacking at buried site; normed accessibility: 0.00, volume change: 85

Details
Sequence features of the substitution site
Region Site Feature table Critical sites
N/A DISULFID show FT fields for Q30201 N/A
PSIC profile scores for two amino acid variants
Score1 Score2 |Score1-Score2| Observations Diagnostics Multiple alignment around substitution position
+2.415 -0.528 2.943 17 precomputed Sequences:  Flanks:  
Mapping of the substitution site to known protein 3D structures
Database Initial number of structures Number of structures
PQS 504 8

Num ID   Res AA E-value Len Ide Gaps Params Cont PDB TITLE
1 1de4_2 G 260 C 4.2e-167 272 1.00 Params   RECEPTOR
2 1de4_2 B 260 C 4.2e-167 272 1.00     RECEPTOR
3 1de4_1 K 260 C 4.2e-167 272 1.00     RECEPTOR
4 1de4_1 G 260 C 4.2e-167 272 1.00     RECEPTOR
5 1de4_1 D 260 C 4.2e-167 272 1.00     RECEPTOR
6 1de4_1 A 260 C 4.2e-167 272 1.00     RECEPTOR
7 1a6z_2 C 260 C 4.2e-167 272 1.00     HFE (HUMAN) HEMOCHROMATOSIS PROTEIN
8 1a6z_1 A 260 C 4.2e-167 272 1.00     HFE (HUMAN) HEMOCHROMATOSIS PROTEIN

Structural parameters
Num ID   Res SecStr Acc Acc Normed dPropens (Phi, Psi) Map Region dVol Normed B-factor
1 1de4_2 G 260 E 0 0.00 1.37 (-120.2, 123.8) B 85 0.73