Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21489 | 64690;64691;64692 | chr2:178585279;178585278;178585277 | chr2:179450006;179450005;179450004 |
| N2AB | 19848 | 59767;59768;59769 | chr2:178585279;178585278;178585277 | chr2:179450006;179450005;179450004 |
| N2A | 18921 | 56986;56987;56988 | chr2:178585279;178585278;178585277 | chr2:179450006;179450005;179450004 |
| N2B | 12424 | 37495;37496;37497 | chr2:178585279;178585278;178585277 | chr2:179450006;179450005;179450004 |
| Novex-1 | 12549 | 37870;37871;37872 | chr2:178585279;178585278;178585277 | chr2:179450006;179450005;179450004 |
| Novex-2 | 12616 | 38071;38072;38073 | chr2:178585279;178585278;178585277 | chr2:179450006;179450005;179450004 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/Q | rs533088470  |
0.234 | 0.794 | N | 0.435 | 0.209 | 0.442977140156 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 1.17924E-03 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| H/Q | rs533088470 |
0.234 | 0.794 | N | 0.435 | 0.209 | 0.442977140156 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| H/Q | rs533088470 |
0.234 | 0.794 | N | 0.435 | 0.209 | 0.442977140156 | gnomAD-4.0.0 | 6.5773E-06 | None | None | None | None | N | None | 0 | 6.55308E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| H/R | None | None | 0.523 | N | 0.409 | 0.208 | 0.365317461125 | gnomAD-4.0.0 | 1.5938E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77546E-05 | None | 0 | 0 | 0 | 0 | 0 |
| H/Y | rs1412094100 |
1.053 | 0.002 | N | 0.117 | 0.197 | 0.267755039894 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.57E-05 | None | 0 | 0 | 0 |
| H/Y | rs1412094100 |
1.053 | 0.002 | N | 0.117 | 0.197 | 0.267755039894 | gnomAD-4.0.0 | 6.84695E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.299E-06 | 2.32509E-05 | 1.6575E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.3442 | ambiguous | 0.2422 | benign | -0.964 | Destabilizing | 0.228 | N | 0.365 | neutral | None | None | None | None | N |
| H/C | 0.2626 | likely_benign | 0.2045 | benign | -0.156 | Destabilizing | 0.94 | D | 0.526 | neutral | None | None | None | None | N |
| H/D | 0.4458 | ambiguous | 0.3034 | benign | -0.406 | Destabilizing | 0.523 | D | 0.499 | neutral | N | 0.423427705 | None | None | N |
| H/E | 0.4671 | ambiguous | 0.3238 | benign | -0.29 | Destabilizing | 0.593 | D | 0.325 | neutral | None | None | None | None | N |
| H/F | 0.2952 | likely_benign | 0.2424 | benign | 0.349 | Stabilizing | 0.264 | N | 0.501 | neutral | None | None | None | None | N |
| H/G | 0.5134 | ambiguous | 0.3862 | ambiguous | -1.348 | Destabilizing | 0.001 | N | 0.205 | neutral | None | None | None | None | N |
| H/I | 0.3299 | likely_benign | 0.24 | benign | 0.105 | Stabilizing | 0.004 | N | 0.292 | neutral | None | None | None | None | N |
| H/K | 0.3286 | likely_benign | 0.2352 | benign | -0.627 | Destabilizing | 0.418 | N | 0.509 | neutral | None | None | None | None | N |
| H/L | 0.1625 | likely_benign | 0.1213 | benign | 0.105 | Stabilizing | None | N | 0.276 | neutral | N | 0.411269271 | None | None | N |
| H/M | 0.4482 | ambiguous | 0.3669 | ambiguous | -0.059 | Destabilizing | 0.716 | D | 0.523 | neutral | None | None | None | None | N |
| H/N | 0.1634 | likely_benign | 0.1179 | benign | -0.783 | Destabilizing | 0.523 | D | 0.351 | neutral | N | 0.423427705 | None | None | N |
| H/P | 0.4899 | ambiguous | 0.3546 | ambiguous | -0.231 | Destabilizing | 0.921 | D | 0.571 | neutral | N | 0.403457864 | None | None | N |
| H/Q | 0.2571 | likely_benign | 0.1813 | benign | -0.53 | Destabilizing | 0.794 | D | 0.435 | neutral | N | 0.443744262 | None | None | N |
| H/R | 0.1628 | likely_benign | 0.1148 | benign | -1.023 | Destabilizing | 0.523 | D | 0.409 | neutral | N | 0.417059093 | None | None | N |
| H/S | 0.3014 | likely_benign | 0.2189 | benign | -0.924 | Destabilizing | 0.228 | N | 0.435 | neutral | None | None | None | None | N |
| H/T | 0.3128 | likely_benign | 0.2203 | benign | -0.695 | Destabilizing | 0.593 | D | 0.509 | neutral | None | None | None | None | N |
| H/V | 0.2598 | likely_benign | 0.1888 | benign | -0.231 | Destabilizing | 0.061 | N | 0.343 | neutral | None | None | None | None | N |
| H/W | 0.4148 | ambiguous | 0.3518 | ambiguous | 0.753 | Stabilizing | 0.951 | D | 0.517 | neutral | None | None | None | None | N |
| H/Y | 0.1192 | likely_benign | 0.099 | benign | 0.795 | Stabilizing | 0.002 | N | 0.117 | neutral | N | 0.480667854 | 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.