Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14728 | 44407;44408;44409 | chr2:178630340;178630339;178630338 | chr2:179495067;179495066;179495065 |
| N2AB | 13087 | 39484;39485;39486 | chr2:178630340;178630339;178630338 | chr2:179495067;179495066;179495065 |
| N2A | 12160 | 36703;36704;36705 | chr2:178630340;178630339;178630338 | chr2:179495067;179495066;179495065 |
| N2B | 5663 | 17212;17213;17214 | chr2:178630340;178630339;178630338 | chr2:179495067;179495066;179495065 |
| Novex-1 | 5788 | 17587;17588;17589 | chr2:178630340;178630339;178630338 | chr2:179495067;179495066;179495065 |
| Novex-2 | 5855 | 17788;17789;17790 | chr2:178630340;178630339;178630338 | chr2:179495067;179495066;179495065 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/L | None | None | None | N | 0.061 | 0.06 | 0.117506650769 | gnomAD-4.0.0 | 1.59929E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86528E-06 | 0 | 0 |
| I/M | rs572315033  |
-0.942 | None | N | 0.339 | 0.037 | None | gnomAD-2.1.1 | 4.08E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 0 |
| I/M | rs572315033 |
-0.942 | None | N | 0.339 | 0.037 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/M | rs572315033 |
-0.942 | None | N | 0.339 | 0.037 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| I/M | rs572315033 |
-0.942 | None | N | 0.339 | 0.037 | None | gnomAD-4.0.0 | 1.86256E-05 | None | None | None | None | N | None | 2.67101E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.37505E-05 | 0 | 0 |
| I/T | None | None | None | N | 0.151 | 0.069 | 0.139678290688 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.3251 | likely_benign | 0.2358 | benign | -1.845 | Destabilizing | None | N | 0.132 | neutral | None | None | None | None | N |
| I/C | 0.5492 | ambiguous | 0.4683 | ambiguous | -1.054 | Destabilizing | 0.131 | N | 0.295 | neutral | None | None | None | None | N |
| I/D | 0.5864 | likely_pathogenic | 0.5073 | ambiguous | -1.824 | Destabilizing | 0.021 | N | 0.538 | neutral | None | None | None | None | N |
| I/E | 0.3894 | ambiguous | 0.343 | ambiguous | -1.839 | Destabilizing | 0.004 | N | 0.419 | neutral | None | None | None | None | N |
| I/F | 0.1365 | likely_benign | 0.1048 | benign | -1.41 | Destabilizing | 0.01 | N | 0.403 | neutral | None | None | None | None | N |
| I/G | 0.5724 | likely_pathogenic | 0.4422 | ambiguous | -2.151 | Highly Destabilizing | 0.004 | N | 0.407 | neutral | None | None | None | None | N |
| I/H | 0.2706 | likely_benign | 0.2468 | benign | -1.356 | Destabilizing | 0.131 | N | 0.499 | neutral | None | None | None | None | N |
| I/K | 0.1403 | likely_benign | 0.1304 | benign | -1.219 | Destabilizing | None | N | 0.212 | neutral | N | 0.304296957 | None | None | N |
| I/L | 0.1156 | likely_benign | 0.0919 | benign | -1.071 | Destabilizing | None | N | 0.061 | neutral | N | 0.405700388 | None | None | N |
| I/M | 0.0994 | likely_benign | 0.0729 | benign | -0.762 | Destabilizing | None | N | 0.339 | neutral | N | 0.419679729 | None | None | N |
| I/N | 0.1483 | likely_benign | 0.1447 | benign | -1.025 | Destabilizing | 0.021 | N | 0.537 | neutral | None | None | None | None | N |
| I/P | 0.9012 | likely_pathogenic | 0.8393 | pathogenic | -1.301 | Destabilizing | 0.041 | N | 0.611 | neutral | None | None | None | None | N |
| I/Q | 0.2302 | likely_benign | 0.196 | benign | -1.295 | Destabilizing | 0.021 | N | 0.533 | neutral | None | None | None | None | N |
| I/R | 0.1096 | likely_benign | 0.0948 | benign | -0.547 | Destabilizing | None | N | 0.293 | neutral | N | 0.372633234 | None | None | N |
| I/S | 0.2169 | likely_benign | 0.1735 | benign | -1.554 | Destabilizing | 0.002 | N | 0.363 | neutral | None | None | None | None | N |
| I/T | 0.1771 | likely_benign | 0.1122 | benign | -1.469 | Destabilizing | None | N | 0.151 | neutral | N | 0.397621197 | None | None | N |
| I/V | 0.092 | likely_benign | 0.0738 | benign | -1.301 | Destabilizing | None | N | 0.079 | neutral | N | 0.397468617 | None | None | N |
| I/W | 0.5811 | likely_pathogenic | 0.4315 | ambiguous | -1.475 | Destabilizing | 0.633 | D | 0.5 | neutral | None | None | None | None | N |
| I/Y | 0.2711 | likely_benign | 0.2627 | benign | -1.27 | Destabilizing | 0.041 | N | 0.501 | 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.