Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3698 | 11317;11318;11319 | chr2:178756384;178756383;178756382 | chr2:179621111;179621110;179621109 |
| 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 | 3527 | 10804;10805;10806 | chr2:178756384;178756383;178756382 | chr2:179621111;179621110;179621109 |
| 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/T | None | None | None | None | None | 0.096 | None | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3411 | ambiguous | None | None | -0.701 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/D | 0.1226 | likely_benign | None | None | -0.616 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/E | 0.0914 | likely_benign | None | None | -0.768 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/F | 0.1662 | likely_benign | None | None | -0.947 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/G | 0.1102 | likely_benign | None | None | -0.408 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/H | 0.2494 | likely_benign | None | None | -0.459 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/I | 0.1074 | likely_benign | None | None | -0.38 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/K | 0.1422 | likely_benign | None | None | -0.741 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/L | 0.1038 | likely_benign | None | None | -0.38 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/M | 0.1144 | likely_benign | None | None | -0.389 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/N | 0.1232 | likely_benign | None | None | -0.371 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/P | 0.4712 | ambiguous | None | None | -0.335 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/Q | 0.1339 | likely_benign | None | None | -0.66 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/R | 0.1193 | likely_benign | None | None | -0.239 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/S | 0.0785 | likely_benign | None | None | -0.551 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/T | 0.0647 | likely_benign | None | None | -0.627 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/V | 0.0674 | likely_benign | None | None | -0.335 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/W | 0.4665 | ambiguous | None | None | -1.101 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/Y | 0.2645 | likely_benign | None | None | -0.759 | 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.