Overview

Predicted structure (AF):

AF-P84243-F1-model_v4

Uniprot entry:

P84243

Gene:

P84243

Protein length:

136 residues

Mutation:

G → Q

Mutation position:

14

D2Deep Prediction:

0.999

Overall confidence:

0.190

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

	9	10	11	12	13	14	15	16	17	18	19
Original	R	K	S	T	G	G	K	A	P	R	K
Target	R	K	S	T	G	Q	K	A	P	R	K

Differences at amino acid level

Feature	Original «G»	Target «Q»
Name	Glycine (Gly)	Glutamine (Gln)
Molecular Formula	C2H5NO2	C5H10N2O3
Residue Formula	C2H3NO	C5H8N2O
Molecular Weight	75.070	146.150 (+71.080)
Residue Weight	57.050	128.130 (+71.080)
Hydrophobicity index at pH 2	Neutral	Neutral
Hydrophobicity index at pH 7	Neutral	Neutral
Charge	Neutral	Neutral
Solutibility	22.500	2.600
Structure Image
Description	Glycine (Gly) is unreactive when it is in proteins. The biosynthesis of serine (amino acid) purines, heme (part of hemoglobin found in the blood) and also glutathione (coenzyme) all require glycine.	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).