Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9365 | 28318;28319;28320 | chr2:178711143;178711142;178711141 | chr2:179575870;179575869;179575868 |
| N2AB | 9048 | 27367;27368;27369 | chr2:178711143;178711142;178711141 | chr2:179575870;179575869;179575868 |
| N2A | 8121 | 24586;24587;24588 | chr2:178711143;178711142;178711141 | chr2:179575870;179575869;179575868 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | None | None | 0.579 | None | 0.384 | 0.147 | 0.294561560033 | gnomAD-4.0.0 | 1.36839E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79892E-06 | 0 | 0 |
| R/P | None | None | 0.907 | None | 0.389 | 0.243 | 0.222439326576 | gnomAD-4.0.0 | 6.84204E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.51889E-05 | None | 0 | 0 | 0 | 0 | 0 |
| R/Q | rs570608843  |
0.142 | 0.039 | None | 0.307 | 0.108 | 0.0611884634855 | gnomAD-2.1.1 | 4.28E-05 | None | None | None | None | I | None | 0 | 1.97986E-04 | None | 9.67E-05 | 0 | None | 0 | None | 0 | 3.12E-05 | 0 |
| R/Q | rs570608843 |
0.142 | 0.039 | None | 0.307 | 0.108 | 0.0611884634855 | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 8.82E-05 | 0 | 0 |
| R/Q | rs570608843 |
0.142 | 0.039 | None | 0.307 | 0.108 | 0.0611884634855 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| R/Q | rs570608843 |
0.142 | 0.039 | None | 0.307 | 0.108 | 0.0611884634855 | gnomAD-4.0.0 | 7.18818E-05 | None | None | None | None | I | None | 2.66596E-05 | 1.16674E-04 | None | 0 | 0 | None | 0 | 0 | 8.90009E-05 | 2.19635E-05 | 0 |
| R/W | rs190600127 |
-0.481 | 0.022 | None | 0.319 | 0.248 | None | gnomAD-2.1.1 | 1.32653E-04 | None | None | None | None | I | None | 6.46E-05 | 3.76615E-04 | None | 0 | 0 | None | 4.57636E-04 | None | 0 | 2.66E-05 | 3.31565E-04 |
| R/W | rs190600127 |
-0.481 | 0.022 | None | 0.319 | 0.248 | None | gnomAD-3.1.2 | 6.57E-05 | None | None | None | None | I | None | 2.41E-05 | 3.27697E-04 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 4.77555E-04 |
| R/W | rs190600127 |
-0.481 | 0.022 | None | 0.319 | 0.248 | None | 1000 genomes | 3.99361E-04 | None | None | None | None | I | None | 0 | 1.4E-03 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| R/W | rs190600127 |
-0.481 | 0.022 | None | 0.319 | 0.248 | None | gnomAD-4.0.0 | 4.77129E-05 | None | None | None | None | I | None | 6.66418E-05 | 4.5E-04 | None | 0 | 0 | None | 0 | 0 | 1.18666E-05 | 2.30617E-04 | 1.60036E-04 |
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 | 0.1691 | likely_benign | 0.1876 | benign | 0.156 | Stabilizing | 0.129 | N | 0.367 | neutral | None | None | None | None | I |
| R/C | 0.1866 | likely_benign | 0.1897 | benign | -0.089 | Destabilizing | 0.983 | D | 0.271 | neutral | None | None | None | None | I |
| R/D | 0.339 | likely_benign | 0.3911 | ambiguous | -0.176 | Destabilizing | 0.418 | N | 0.426 | neutral | None | None | None | None | I |
| R/E | 0.1923 | likely_benign | 0.2162 | benign | -0.127 | Destabilizing | 0.129 | N | 0.358 | neutral | None | None | None | None | I |
| R/F | 0.3134 | likely_benign | 0.3353 | benign | -0.178 | Destabilizing | 0.557 | D | 0.366 | neutral | None | None | None | None | I |
| R/G | 0.1232 | likely_benign | 0.1356 | benign | 0.007 | Stabilizing | 0.579 | D | 0.384 | neutral | None | None | None | None | I |
| R/H | 0.0901 | likely_benign | 0.0943 | benign | -0.603 | Destabilizing | 0.836 | D | 0.366 | neutral | None | None | None | None | I |
| R/I | 0.122 | likely_benign | 0.1432 | benign | 0.502 | Stabilizing | 0.264 | N | 0.397 | neutral | None | None | None | None | I |
| R/K | 0.0808 | likely_benign | 0.0903 | benign | 0.038 | Stabilizing | 0.001 | N | 0.192 | neutral | None | None | None | None | I |
| R/L | 0.1235 | likely_benign | 0.1357 | benign | 0.502 | Stabilizing | 0.089 | N | 0.335 | neutral | None | None | None | None | I |
| R/M | 0.1426 | likely_benign | 0.1542 | benign | 0.02 | Stabilizing | 0.027 | N | 0.279 | neutral | None | None | None | None | I |
| R/N | 0.2703 | likely_benign | 0.3079 | benign | 0.137 | Stabilizing | 0.418 | N | 0.388 | neutral | None | None | None | None | I |
| R/P | 0.1976 | likely_benign | 0.2297 | benign | 0.405 | Stabilizing | 0.907 | D | 0.389 | neutral | None | None | None | None | I |
| R/Q | 0.0804 | likely_benign | 0.085 | benign | 0.11 | Stabilizing | 0.039 | N | 0.307 | neutral | None | None | None | None | I |
| R/S | 0.2099 | likely_benign | 0.243 | benign | -0.043 | Destabilizing | 0.264 | N | 0.375 | neutral | None | None | None | None | I |
| R/T | 0.1222 | likely_benign | 0.137 | benign | 0.12 | Stabilizing | 0.418 | N | 0.418 | neutral | None | None | None | None | I |
| R/V | 0.1811 | likely_benign | 0.213 | benign | 0.405 | Stabilizing | 0.264 | N | 0.388 | neutral | None | None | None | None | I |
| R/W | 0.1297 | likely_benign | 0.129 | benign | -0.381 | Destabilizing | 0.022 | N | 0.319 | neutral | None | None | None | None | I |
| R/Y | 0.2259 | likely_benign | 0.2517 | benign | 0.051 | Stabilizing | 0.557 | D | 0.388 | neutral | None | None | None | None | I |
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.