Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3736 | 11431;11432;11433 | chr2:178756270;178756269;178756268 | chr2:179620997;179620996;179620995 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | 3565 | 10918;10919;10920 | chr2:178756270;178756269;178756268 | chr2:179620997;179620996;179620995 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/S | rs759184770  |
-0.462 | None | None | None | 0.156 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| N/S | rs759184770 |
-0.462 | None | None | None | 0.156 | None | gnomAD-4.0.0 | 3.42125E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59807E-06 | 1.15953E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.6585 | likely_pathogenic | None | None | -0.561 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/C | 0.6172 | likely_pathogenic | None | None | 0.264 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/D | 0.249 | likely_benign | None | None | -0.851 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/E | 0.7853 | likely_pathogenic | None | None | -0.785 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/F | 0.9217 | likely_pathogenic | None | None | -0.391 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/G | 0.5083 | ambiguous | None | None | -0.882 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/H | 0.3089 | likely_benign | None | None | -0.93 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/I | 0.742 | likely_pathogenic | None | None | 0.243 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/K | 0.6632 | likely_pathogenic | None | None | -0.485 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/L | 0.6492 | likely_pathogenic | None | None | 0.243 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/M | 0.7769 | likely_pathogenic | None | None | 0.766 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/P | 0.9232 | likely_pathogenic | None | None | 0.005 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/Q | 0.7376 | likely_pathogenic | None | None | -0.937 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/R | 0.6459 | likely_pathogenic | None | None | -0.568 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/S | 0.1283 | likely_benign | None | None | -0.806 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/T | 0.3302 | likely_benign | None | None | -0.582 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/V | 0.7635 | likely_pathogenic | None | None | 0.005 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/W | 0.954 | likely_pathogenic | None | None | -0.298 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/Y | 0.5251 | ambiguous | None | None | -0.078 | Destabilizing | None | None | None | None | 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.