Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4611 | 14056;14057;14058 | chr2:178739402;178739401;178739400 | chr2:179604129;179604128;179604127 |
| N2AB | 4294 | 13105;13106;13107 | chr2:178739402;178739401;178739400 | chr2:179604129;179604128;179604127 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 4248 | 12967;12968;12969 | chr2:178739402;178739401;178739400 | chr2:179604129;179604128;179604127 |
| Novex-1 | 4373 | 13342;13343;13344 | chr2:178739402;178739401;178739400 | chr2:179604129;179604128;179604127 |
| Novex-2 | 4440 | 13543;13544;13545 | chr2:178739402;178739401;178739400 | chr2:179604129;179604128;179604127 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/H | rs1468424407  |
-0.706 | None | N | 0.37 | 0.162 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| P/H | rs1468424407 |
-0.706 | None | N | 0.37 | 0.162 | None | gnomAD-4.0.0 | 4.10512E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.04058E-05 | None | 0 | 0 | 3.59777E-06 | 0 | 0 |
| P/S | rs1176048298 |
-0.777 | None | N | 0.169 | 0.164 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| P/S | rs1176048298 |
-0.777 | None | N | 0.169 | 0.164 | None | gnomAD-4.0.0 | 1.59117E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77423E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0829 | likely_benign | 0.0972 | benign | -0.857 | Destabilizing | 0.001 | N | 0.175 | neutral | N | 0.508851495 | None | None | N |
| P/C | 0.3734 | ambiguous | 0.432 | ambiguous | -0.75 | Destabilizing | 0.781 | D | 0.477 | neutral | None | None | None | None | N |
| P/D | 0.3347 | likely_benign | 0.4232 | ambiguous | -0.383 | Destabilizing | 0.064 | N | 0.425 | neutral | None | None | None | None | N |
| P/E | 0.225 | likely_benign | 0.2849 | benign | -0.463 | Destabilizing | 0.033 | N | 0.398 | neutral | None | None | None | None | N |
| P/F | 0.3429 | ambiguous | 0.4301 | ambiguous | -0.854 | Destabilizing | 0.367 | N | 0.579 | neutral | None | None | None | None | N |
| P/G | 0.2595 | likely_benign | 0.3303 | benign | -1.055 | Destabilizing | None | N | 0.257 | neutral | None | None | None | None | N |
| P/H | 0.1394 | likely_benign | 0.1672 | benign | -0.575 | Destabilizing | None | N | 0.37 | neutral | N | 0.50568474 | None | None | N |
| P/I | 0.2604 | likely_benign | 0.3311 | benign | -0.464 | Destabilizing | 0.142 | N | 0.59 | neutral | None | None | None | None | N |
| P/K | 0.2001 | likely_benign | 0.2645 | benign | -0.658 | Destabilizing | None | N | 0.186 | neutral | None | None | None | None | N |
| P/L | 0.1106 | likely_benign | 0.1296 | benign | -0.464 | Destabilizing | 0.025 | N | 0.439 | neutral | D | 0.547832486 | None | None | N |
| P/M | 0.2758 | likely_benign | 0.3484 | ambiguous | -0.406 | Destabilizing | 0.54 | D | 0.489 | neutral | None | None | None | None | N |
| P/N | 0.2491 | likely_benign | 0.3217 | benign | -0.422 | Destabilizing | 0.033 | N | 0.453 | neutral | None | None | None | None | N |
| P/Q | 0.1389 | likely_benign | 0.1744 | benign | -0.656 | Destabilizing | 0.006 | N | 0.259 | neutral | None | None | None | None | N |
| P/R | 0.1307 | likely_benign | 0.1574 | benign | -0.141 | Destabilizing | 0.025 | N | 0.498 | neutral | N | 0.504903406 | None | None | N |
| P/S | 0.1055 | likely_benign | 0.1255 | benign | -0.884 | Destabilizing | None | N | 0.169 | neutral | N | 0.51049968 | None | None | N |
| P/T | 0.1018 | likely_benign | 0.1232 | benign | -0.86 | Destabilizing | None | N | 0.174 | neutral | D | 0.539818142 | None | None | N |
| P/V | 0.1903 | likely_benign | 0.2405 | benign | -0.559 | Destabilizing | 0.033 | N | 0.455 | neutral | None | None | None | None | N |
| P/W | 0.5299 | ambiguous | 0.6022 | pathogenic | -0.935 | Destabilizing | 0.931 | D | 0.483 | neutral | None | None | None | None | N |
| P/Y | 0.3034 | likely_benign | 0.3715 | ambiguous | -0.641 | Destabilizing | 0.076 | N | 0.598 | neutral | 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.