Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21834 | 65725;65726;65727 | chr2:178583682;178583681;178583680 | chr2:179448409;179448408;179448407 |
| N2AB | 20193 | 60802;60803;60804 | chr2:178583682;178583681;178583680 | chr2:179448409;179448408;179448407 |
| N2A | 19266 | 58021;58022;58023 | chr2:178583682;178583681;178583680 | chr2:179448409;179448408;179448407 |
| N2B | 12769 | 38530;38531;38532 | chr2:178583682;178583681;178583680 | chr2:179448409;179448408;179448407 |
| Novex-1 | 12894 | 38905;38906;38907 | chr2:178583682;178583681;178583680 | chr2:179448409;179448408;179448407 |
| Novex-2 | 12961 | 39106;39107;39108 | chr2:178583682;178583681;178583680 | chr2:179448409;179448408;179448407 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | None | None | 0.993 | N | 0.573 | 0.339 | 0.332133492242 | gnomAD-4.0.0 | 6.84853E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99912E-07 | 0 | 0 |
| A/T | rs374874879  |
-1.652 | 0.961 | N | 0.569 | 0.24 | None | gnomAD-2.1.1 | 8.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| A/T | rs374874879 |
-1.652 | 0.961 | N | 0.569 | 0.24 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/T | rs374874879 |
-1.652 | 0.961 | N | 0.569 | 0.24 | None | gnomAD-4.0.0 | 1.4266E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.78089E-05 | 0 | 3.20729E-05 |
| A/V | rs878949081 |
-0.519 | 0.122 | N | 0.373 | 0.287 | None | gnomAD-2.1.1 | 8.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| A/V | rs878949081 |
-0.519 | 0.122 | N | 0.373 | 0.287 | None | gnomAD-4.0.0 | 4.79397E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29938E-06 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4107 | ambiguous | 0.4201 | ambiguous | -1.494 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| A/D | 0.9847 | likely_pathogenic | 0.977 | pathogenic | -2.779 | Highly Destabilizing | 0.998 | D | 0.81 | deleterious | N | 0.478653764 | None | None | N |
| A/E | 0.9668 | likely_pathogenic | 0.9586 | pathogenic | -2.506 | Highly Destabilizing | 0.999 | D | 0.708 | prob.delet. | None | None | None | None | N |
| A/F | 0.8303 | likely_pathogenic | 0.7731 | pathogenic | -0.592 | Destabilizing | 0.996 | D | 0.811 | deleterious | None | None | None | None | N |
| A/G | 0.5048 | ambiguous | 0.457 | ambiguous | -1.994 | Destabilizing | 0.993 | D | 0.573 | neutral | N | 0.478653764 | None | None | N |
| A/H | 0.9832 | likely_pathogenic | 0.9784 | pathogenic | -2.247 | Highly Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| A/I | 0.197 | likely_benign | 0.1685 | benign | -0.05 | Destabilizing | 0.304 | N | 0.628 | neutral | None | None | None | None | N |
| A/K | 0.9914 | likely_pathogenic | 0.9895 | pathogenic | -1.217 | Destabilizing | 0.999 | D | 0.706 | prob.neutral | None | None | None | None | N |
| A/L | 0.2939 | likely_benign | 0.2616 | benign | -0.05 | Destabilizing | 0.871 | D | 0.638 | neutral | None | None | None | None | N |
| A/M | 0.4822 | ambiguous | 0.4075 | ambiguous | -0.633 | Destabilizing | 0.996 | D | 0.742 | deleterious | None | None | None | None | N |
| A/N | 0.9262 | likely_pathogenic | 0.8966 | pathogenic | -1.768 | Destabilizing | 0.999 | D | 0.827 | deleterious | None | None | None | None | N |
| A/P | 0.8891 | likely_pathogenic | 0.8696 | pathogenic | -0.492 | Destabilizing | 0.998 | D | 0.719 | prob.delet. | N | 0.478653764 | None | None | N |
| A/Q | 0.9634 | likely_pathogenic | 0.9577 | pathogenic | -1.413 | Destabilizing | 0.999 | D | 0.739 | prob.delet. | None | None | None | None | N |
| A/R | 0.9783 | likely_pathogenic | 0.9761 | pathogenic | -1.484 | Destabilizing | 0.999 | D | 0.723 | prob.delet. | None | None | None | None | N |
| A/S | 0.311 | likely_benign | 0.2763 | benign | -2.13 | Highly Destabilizing | 0.98 | D | 0.598 | neutral | N | 0.44902429 | None | None | N |
| A/T | 0.2174 | likely_benign | 0.1713 | benign | -1.728 | Destabilizing | 0.961 | D | 0.569 | neutral | N | 0.459625286 | None | None | N |
| A/V | 0.0852 | likely_benign | 0.0771 | benign | -0.492 | Destabilizing | 0.122 | N | 0.373 | neutral | N | 0.253540682 | None | None | N |
| A/W | 0.989 | likely_pathogenic | 0.9858 | pathogenic | -1.368 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| A/Y | 0.9563 | likely_pathogenic | 0.9399 | pathogenic | -0.944 | Destabilizing | 0.999 | D | 0.826 | deleterious | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.