Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20165 | 60718;60719;60720 | chr2:178591232;178591231;178591230 | chr2:179455959;179455958;179455957 |
| N2AB | 18524 | 55795;55796;55797 | chr2:178591232;178591231;178591230 | chr2:179455959;179455958;179455957 |
| N2A | 17597 | 53014;53015;53016 | chr2:178591232;178591231;178591230 | chr2:179455959;179455958;179455957 |
| N2B | 11100 | 33523;33524;33525 | chr2:178591232;178591231;178591230 | chr2:179455959;179455958;179455957 |
| Novex-1 | 11225 | 33898;33899;33900 | chr2:178591232;178591231;178591230 | chr2:179455959;179455958;179455957 |
| Novex-2 | 11292 | 34099;34100;34101 | chr2:178591232;178591231;178591230 | chr2:179455959;179455958;179455957 |
| 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/L | rs771554801  |
0.569 | 0.959 | N | 0.59 | 0.322 | 0.685150128463 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.96E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
| H/L | rs771554801 |
0.569 | 0.959 | N | 0.59 | 0.322 | 0.685150128463 | gnomAD-4.0.0 | 6.84352E-07 | None | None | None | None | N | None | 0 | 0 | None | 3.82936E-05 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| H/Q | None | None | 0.959 | N | 0.609 | 0.256 | 0.454798141022 | gnomAD-4.0.0 | 1.36869E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.04337E-05 | None | 0 | 0 | 0 | 0 | 0 |
| H/R | rs771554801 |
-0.443 | 0.959 | N | 0.575 | 0.243 | 0.432041664125 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 4.13E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.56E-05 | 0 |
| H/R | rs771554801 |
-0.443 | 0.959 | N | 0.575 | 0.243 | 0.432041664125 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| H/R | rs771554801 |
-0.443 | 0.959 | N | 0.575 | 0.243 | 0.432041664125 | gnomAD-4.0.0 | 6.19849E-06 | None | None | None | None | N | None | 1.3354E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 6.78211E-06 | 0 | 1.60154E-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 | 0.4551 | ambiguous | 0.5121 | ambiguous | -0.824 | Destabilizing | 0.759 | D | 0.521 | neutral | None | None | None | None | N |
| H/C | 0.232 | likely_benign | 0.2609 | benign | -0.19 | Destabilizing | 0.999 | D | 0.553 | neutral | None | None | None | None | N |
| H/D | 0.4213 | ambiguous | 0.4775 | ambiguous | -0.179 | Destabilizing | 0.704 | D | 0.574 | neutral | N | 0.501888488 | None | None | N |
| H/E | 0.4807 | ambiguous | 0.5573 | ambiguous | -0.109 | Destabilizing | 0.863 | D | 0.609 | neutral | None | None | None | None | N |
| H/F | 0.423 | ambiguous | 0.4854 | ambiguous | 0.023 | Stabilizing | 0.997 | D | 0.631 | neutral | None | None | None | None | N |
| H/G | 0.4849 | ambiguous | 0.538 | ambiguous | -1.153 | Destabilizing | 0.863 | D | 0.511 | neutral | None | None | None | None | N |
| H/I | 0.4536 | ambiguous | 0.5207 | ambiguous | 0.064 | Stabilizing | 0.991 | D | 0.582 | neutral | None | None | None | None | N |
| H/K | 0.25 | likely_benign | 0.2853 | benign | -0.678 | Destabilizing | 0.939 | D | 0.589 | neutral | None | None | None | None | N |
| H/L | 0.1998 | likely_benign | 0.2336 | benign | 0.064 | Stabilizing | 0.959 | D | 0.59 | neutral | N | 0.496231952 | None | None | N |
| H/M | 0.582 | likely_pathogenic | 0.6365 | pathogenic | -0.054 | Destabilizing | 0.997 | D | 0.555 | neutral | None | None | None | None | N |
| H/N | 0.1567 | likely_benign | 0.1727 | benign | -0.591 | Destabilizing | 0.061 | N | 0.155 | neutral | N | 0.434663419 | None | None | N |
| H/P | 0.3217 | likely_benign | 0.3868 | ambiguous | -0.21 | Destabilizing | 0.996 | D | 0.578 | neutral | N | 0.50769974 | None | None | N |
| H/Q | 0.2337 | likely_benign | 0.2626 | benign | -0.438 | Destabilizing | 0.959 | D | 0.609 | neutral | N | 0.476144682 | None | None | N |
| H/R | 0.1076 | likely_benign | 0.116 | benign | -0.963 | Destabilizing | 0.959 | D | 0.575 | neutral | N | 0.455481408 | None | None | N |
| H/S | 0.3333 | likely_benign | 0.3723 | ambiguous | -0.78 | Destabilizing | 0.2 | N | 0.212 | neutral | None | None | None | None | N |
| H/T | 0.3525 | ambiguous | 0.4142 | ambiguous | -0.609 | Destabilizing | 0.939 | D | 0.572 | neutral | None | None | None | None | N |
| H/V | 0.3897 | ambiguous | 0.4409 | ambiguous | -0.21 | Destabilizing | 0.969 | D | 0.605 | neutral | None | None | None | None | N |
| H/W | 0.5306 | ambiguous | 0.5664 | pathogenic | 0.297 | Stabilizing | 0.999 | D | 0.563 | neutral | None | None | None | None | N |
| H/Y | 0.1557 | likely_benign | 0.1749 | benign | 0.504 | Stabilizing | 0.986 | D | 0.577 | neutral | N | 0.512009481 | 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.