Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23443 | 70552;70553;70554 | chr2:178575805;178575804;178575803 | chr2:179440532;179440531;179440530 |
| N2AB | 21802 | 65629;65630;65631 | chr2:178575805;178575804;178575803 | chr2:179440532;179440531;179440530 |
| N2A | 20875 | 62848;62849;62850 | chr2:178575805;178575804;178575803 | chr2:179440532;179440531;179440530 |
| N2B | 14378 | 43357;43358;43359 | chr2:178575805;178575804;178575803 | chr2:179440532;179440531;179440530 |
| Novex-1 | 14503 | 43732;43733;43734 | chr2:178575805;178575804;178575803 | chr2:179440532;179440531;179440530 |
| Novex-2 | 14570 | 43933;43934;43935 | chr2:178575805;178575804;178575803 | chr2:179440532;179440531;179440530 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | rs765987438  |
-1.283 | 0.251 | N | 0.519 | 0.148 | 0.288352970974 | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.56E-05 | 0 |
| R/G | rs765987438 |
-1.283 | 0.251 | N | 0.519 | 0.148 | 0.288352970974 | 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 |
| R/G | rs765987438 |
-1.283 | 0.251 | N | 0.519 | 0.148 | 0.288352970974 | gnomAD-4.0.0 | 2.48005E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.3922E-06 | 0 | 0 |
| R/Q | rs762529671 |
-0.131 | 0.271 | N | 0.414 | 0.047 | 0.107399877778 | gnomAD-2.1.1 | 3.22E-05 | None | None | None | None | N | None | 4.13E-05 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 3.91E-05 | 1.40568E-04 |
| R/Q | rs762529671 |
-0.131 | 0.271 | N | 0.414 | 0.047 | 0.107399877778 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| R/Q | rs762529671 |
-0.131 | 0.271 | N | 0.414 | 0.047 | 0.107399877778 | gnomAD-4.0.0 | 3.22414E-05 | None | None | None | None | N | None | 4.00759E-05 | 0 | None | 0 | 0 | None | 7.81421E-05 | 0 | 3.30736E-05 | 4.3929E-05 | 1.60179E-05 |
| R/W | rs765987438 |
-0.227 | 0.984 | N | 0.602 | 0.39 | 0.277317399466 | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.68E-05 | 5.14E-05 | None | 0 | None | 0 | 0 | 0 |
| R/W | rs765987438 |
-0.227 | 0.984 | N | 0.602 | 0.39 | 0.277317399466 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93874E-04 | None | 0 | 0 | 0 | 0 | 0 |
| R/W | rs765987438 |
-0.227 | 0.984 | N | 0.602 | 0.39 | 0.277317399466 | gnomAD-4.0.0 | 3.10006E-06 | None | None | None | None | N | None | 0 | 0 | None | 3.37952E-05 | 4.46468E-05 | None | 0 | 0 | 8.4805E-07 | 1.09813E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.3102 | likely_benign | 0.3481 | ambiguous | -0.687 | Destabilizing | 0.035 | N | 0.445 | neutral | None | None | None | None | N |
| R/C | 0.1244 | likely_benign | 0.1165 | benign | -0.582 | Destabilizing | 0.935 | D | 0.573 | neutral | None | None | None | None | N |
| R/D | 0.6569 | likely_pathogenic | 0.6703 | pathogenic | -0.07 | Destabilizing | 0.149 | N | 0.547 | neutral | None | None | None | None | N |
| R/E | 0.2799 | likely_benign | 0.3035 | benign | 0.093 | Stabilizing | 0.035 | N | 0.415 | neutral | None | None | None | None | N |
| R/F | 0.3494 | ambiguous | 0.3723 | ambiguous | -0.287 | Destabilizing | 0.791 | D | 0.587 | neutral | None | None | None | None | N |
| R/G | 0.2862 | likely_benign | 0.3303 | benign | -1.05 | Destabilizing | 0.251 | N | 0.519 | neutral | N | 0.490814985 | None | None | N |
| R/H | 0.0738 | likely_benign | 0.0665 | benign | -1.4 | Destabilizing | 0.555 | D | 0.547 | neutral | None | None | None | None | N |
| R/I | 0.1414 | likely_benign | 0.1577 | benign | 0.306 | Stabilizing | 0.555 | D | 0.601 | neutral | None | None | None | None | N |
| R/K | 0.0619 | likely_benign | 0.068 | benign | -0.677 | Destabilizing | None | N | 0.125 | neutral | None | None | None | None | N |
| R/L | 0.1577 | likely_benign | 0.1696 | benign | 0.306 | Stabilizing | 0.251 | N | 0.519 | neutral | N | 0.504456286 | None | None | N |
| R/M | 0.1643 | likely_benign | 0.1905 | benign | -0.131 | Destabilizing | 0.791 | D | 0.581 | neutral | None | None | None | None | N |
| R/N | 0.4049 | ambiguous | 0.434 | ambiguous | -0.279 | Destabilizing | 0.149 | N | 0.42 | neutral | None | None | None | None | N |
| R/P | 0.9003 | likely_pathogenic | 0.9188 | pathogenic | -0.003 | Destabilizing | 0.405 | N | 0.605 | neutral | N | 0.51934838 | None | None | N |
| R/Q | 0.0785 | likely_benign | 0.079 | benign | -0.304 | Destabilizing | 0.271 | N | 0.414 | neutral | N | 0.433593478 | None | None | N |
| R/S | 0.3399 | likely_benign | 0.3652 | ambiguous | -0.978 | Destabilizing | 0.035 | N | 0.446 | neutral | None | None | None | None | N |
| R/T | 0.1492 | likely_benign | 0.1668 | benign | -0.61 | Destabilizing | 0.149 | N | 0.465 | neutral | None | None | None | None | N |
| R/V | 0.1987 | likely_benign | 0.2108 | benign | -0.003 | Destabilizing | 0.149 | N | 0.581 | neutral | None | None | None | None | N |
| R/W | 0.1835 | likely_benign | 0.1838 | benign | 0.054 | Stabilizing | 0.984 | D | 0.602 | neutral | N | 0.496211444 | None | None | N |
| R/Y | 0.2747 | likely_benign | 0.2737 | benign | 0.328 | Stabilizing | 0.791 | D | 0.587 | 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.