Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16616 | 50071;50072;50073 | chr2:178612875;178612874;178612873 | chr2:179477602;179477601;179477600 |
| N2AB | 14975 | 45148;45149;45150 | chr2:178612875;178612874;178612873 | chr2:179477602;179477601;179477600 |
| N2A | 14048 | 42367;42368;42369 | chr2:178612875;178612874;178612873 | chr2:179477602;179477601;179477600 |
| N2B | 7551 | 22876;22877;22878 | chr2:178612875;178612874;178612873 | chr2:179477602;179477601;179477600 |
| Novex-1 | 7676 | 23251;23252;23253 | chr2:178612875;178612874;178612873 | chr2:179477602;179477601;179477600 |
| Novex-2 | 7743 | 23452;23453;23454 | chr2:178612875;178612874;178612873 | chr2:179477602;179477601;179477600 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/I | rs2056601622  |
None | 0.985 | N | 0.454 | 0.335 | 0.48300943003 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| M/I | rs2056601622 |
None | 0.985 | N | 0.454 | 0.335 | 0.48300943003 | gnomAD-4.0.0 | 6.5825E-06 | None | None | None | None | N | None | 2.41534E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| M/L | rs1284104551 |
-0.318 | 0.927 | N | 0.243 | 0.342 | 0.443797312901 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| M/L | rs1284104551 |
-0.318 | 0.927 | N | 0.243 | 0.342 | 0.443797312901 | gnomAD-4.0.0 | 1.59378E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43328E-05 | 0 |
| M/T | rs1428945132 |
-0.094 | 0.994 | N | 0.489 | 0.415 | 0.571554507246 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.49E-05 | 0 |
| M/T | rs1428945132 |
-0.094 | 0.994 | N | 0.489 | 0.415 | 0.571554507246 | 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 |
| M/T | rs1428945132 |
-0.094 | 0.994 | N | 0.489 | 0.415 | 0.571554507246 | gnomAD-4.0.0 | 2.03049E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.41018E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.5005 | ambiguous | 0.5106 | ambiguous | -1.246 | Destabilizing | 0.989 | D | 0.483 | neutral | None | None | None | None | N |
| M/C | 0.8469 | likely_pathogenic | 0.8655 | pathogenic | -0.939 | Destabilizing | 1.0 | D | 0.532 | neutral | None | None | None | None | N |
| M/D | 0.8712 | likely_pathogenic | 0.9072 | pathogenic | -0.02 | Destabilizing | 0.999 | D | 0.631 | neutral | None | None | None | None | N |
| M/E | 0.5525 | ambiguous | 0.6478 | pathogenic | -0.008 | Destabilizing | 0.999 | D | 0.493 | neutral | None | None | None | None | N |
| M/F | 0.534 | ambiguous | 0.4976 | ambiguous | -0.433 | Destabilizing | 0.999 | D | 0.42 | neutral | None | None | None | None | N |
| M/G | 0.7284 | likely_pathogenic | 0.7599 | pathogenic | -1.522 | Destabilizing | 0.995 | D | 0.525 | neutral | None | None | None | None | N |
| M/H | 0.6408 | likely_pathogenic | 0.687 | pathogenic | -0.493 | Destabilizing | 1.0 | D | 0.599 | neutral | None | None | None | None | N |
| M/I | 0.5121 | ambiguous | 0.4555 | ambiguous | -0.565 | Destabilizing | 0.985 | D | 0.454 | neutral | N | 0.432762151 | None | None | N |
| M/K | 0.2594 | likely_benign | 0.3081 | benign | -0.117 | Destabilizing | 0.994 | D | 0.491 | neutral | N | 0.379046224 | None | None | N |
| M/L | 0.178 | likely_benign | 0.1623 | benign | -0.565 | Destabilizing | 0.927 | D | 0.243 | neutral | N | 0.447636624 | None | None | N |
| M/N | 0.6716 | likely_pathogenic | 0.6903 | pathogenic | -0.037 | Destabilizing | 0.999 | D | 0.598 | neutral | None | None | None | None | N |
| M/P | 0.7771 | likely_pathogenic | 0.8122 | pathogenic | -0.764 | Destabilizing | 0.999 | D | 0.599 | neutral | None | None | None | None | N |
| M/Q | 0.2649 | likely_benign | 0.3285 | benign | -0.117 | Destabilizing | 0.999 | D | 0.432 | neutral | None | None | None | None | N |
| M/R | 0.2941 | likely_benign | 0.3436 | ambiguous | 0.377 | Stabilizing | 0.998 | D | 0.479 | neutral | N | 0.442956171 | None | None | N |
| M/S | 0.536 | ambiguous | 0.5666 | pathogenic | -0.623 | Destabilizing | 0.995 | D | 0.449 | neutral | None | None | None | None | N |
| M/T | 0.3005 | likely_benign | 0.3276 | benign | -0.493 | Destabilizing | 0.994 | D | 0.489 | neutral | N | 0.425765869 | None | None | N |
| M/V | 0.1547 | likely_benign | 0.1472 | benign | -0.764 | Destabilizing | 0.985 | D | 0.425 | neutral | N | 0.430281033 | None | None | N |
| M/W | 0.7914 | likely_pathogenic | 0.7984 | pathogenic | -0.363 | Destabilizing | 1.0 | D | 0.551 | neutral | None | None | None | None | N |
| M/Y | 0.7725 | likely_pathogenic | 0.7647 | pathogenic | -0.332 | Destabilizing | 0.999 | D | 0.527 | 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.