Overview

Predicted structure (AF):

AF-P84243-F1-model_v4

Uniprot entry:

P84243

Gene:

P84243

Protein length:

136 residues

Mutation:

P → Q

Mutation position:

17

D2Deep Prediction:

0.953

Overall confidence:

0.187

Pred. interpretation:

Pathogenic based on D2Deep prediction

 

Benign

Pathogenic

Scores that are greater than or equal to 0.5 are considered "Pathogenic", while scores that are less than 0.5 are considered "Benign".

Sequence difference

	12	13	14	15	16	17	18	19	20	21	22
Original	T	G	G	K	A	P	R	K	Q	L	A
Target	T	G	G	K	A	Q	R	K	Q	L	A

Differences at amino acid level

Feature	Original «P»	Target «Q»
Name	Proline (Pro)	Glutamine (Gln)
Molecular Formula	C5H9NO2	C5H10N2O3
Residue Formula	C5H7NO	C5H8N2O
Molecular Weight	115.130	146.150 (+31.020)
Residue Weight	97.120	128.130 (+31.010)
Hydrophobicity index at pH 2	Hydrophilic	Neutral
Hydrophobicity index at pH 7	Undetermined	Neutral
Charge	Neutral	Neutral
Solutibility	1.540	2.600
Structure Image
Description	Proline (Pro) is made from glutamic acid. When it is in a protein it causes sharp bends to occur in the peptide chain, altering the protein’s final structure.	Glutamine (Gln) is the most abundant amino acid in human bodies, and it performs several functions. It is responsible for regulating toxic ammonia and urea in human bodies. The reason glutamine can remove toxic ammonia is because its carboxyl side chain can act as a donor and acceptor for ammonia (this then allows for the safe transport of ammonia in human bodies).