Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5266 | 16021;16022;16023 | chr2:178733497;178733496;178733495 | chr2:179598224;179598223;179598222 |
| N2AB | 4949 | 15070;15071;15072 | chr2:178733497;178733496;178733495 | chr2:179598224;179598223;179598222 |
| N2A | 4022 | 12289;12290;12291 | chr2:178733497;178733496;178733495 | chr2:179598224;179598223;179598222 |
| 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/L | None | None | 0.756 | N | 0.43 | 0.258 | 0.43848807779 | gnomAD-4.0.0 | 3.42685E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.50422E-06 | 0 | 0 |
| R/Q | rs749816144  |
-0.053 | 0.774 | N | 0.384 | 0.173 | 0.239305524855 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 3.29E-05 | None | 0 | 0 | 1.66945E-04 |
| R/Q | rs749816144 |
-0.053 | 0.774 | N | 0.384 | 0.173 | 0.239305524855 | gnomAD-4.0.0 | 1.3022E-05 | None | None | None | None | N | None | 2.99778E-05 | 0 | None | 0 | 2.5222E-05 | None | 0 | 0 | 1.35127E-05 | 1.16176E-05 | 1.65997E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.2004 | likely_benign | 0.231 | benign | -0.201 | Destabilizing | 0.25 | N | 0.394 | neutral | None | None | None | None | N |
| R/C | 0.183 | likely_benign | 0.21 | benign | -0.251 | Destabilizing | 0.992 | D | 0.351 | neutral | None | None | None | None | N |
| R/D | 0.397 | ambiguous | 0.4395 | ambiguous | -0.008 | Destabilizing | 0.617 | D | 0.43 | neutral | None | None | None | None | N |
| R/E | 0.1683 | likely_benign | 0.198 | benign | 0.12 | Stabilizing | 0.25 | N | 0.351 | neutral | None | None | None | None | N |
| R/F | 0.4487 | ambiguous | 0.5 | ambiguous | -0.096 | Destabilizing | 0.972 | D | 0.364 | neutral | None | None | None | None | N |
| R/G | 0.1222 | likely_benign | 0.1517 | benign | -0.492 | Destabilizing | 0.756 | D | 0.426 | neutral | N | 0.495564818 | None | None | N |
| R/H | 0.095 | likely_benign | 0.0991 | benign | -1.077 | Destabilizing | 0.92 | D | 0.416 | neutral | None | None | None | None | N |
| R/I | 0.1962 | likely_benign | 0.2239 | benign | 0.562 | Stabilizing | 0.92 | D | 0.387 | neutral | None | None | None | None | N |
| R/K | 0.0645 | likely_benign | 0.0672 | benign | -0.17 | Destabilizing | 0.002 | N | 0.149 | neutral | None | None | None | None | N |
| R/L | 0.1863 | likely_benign | 0.2071 | benign | 0.562 | Stabilizing | 0.756 | D | 0.43 | neutral | N | 0.507274984 | None | None | N |
| R/M | 0.1639 | likely_benign | 0.1775 | benign | -0.027 | Destabilizing | 0.972 | D | 0.379 | neutral | None | None | None | None | N |
| R/N | 0.3224 | likely_benign | 0.3515 | ambiguous | 0.062 | Stabilizing | 0.617 | D | 0.374 | neutral | None | None | None | None | N |
| R/P | 0.2926 | likely_benign | 0.3145 | benign | 0.33 | Stabilizing | 0.004 | N | 0.22 | neutral | N | 0.448671325 | None | None | N |
| R/Q | 0.0822 | likely_benign | 0.0894 | benign | 0.042 | Stabilizing | 0.774 | D | 0.384 | neutral | N | 0.487090492 | None | None | N |
| R/S | 0.253 | likely_benign | 0.2914 | benign | -0.402 | Destabilizing | 0.447 | N | 0.386 | neutral | None | None | None | None | N |
| R/T | 0.1208 | likely_benign | 0.1326 | benign | -0.094 | Destabilizing | 0.617 | D | 0.404 | neutral | None | None | None | None | N |
| R/V | 0.2449 | likely_benign | 0.2746 | benign | 0.33 | Stabilizing | 0.617 | D | 0.397 | neutral | None | None | None | None | N |
| R/W | 0.1835 | likely_benign | 0.2006 | benign | 0.006 | Stabilizing | 0.992 | D | 0.452 | neutral | None | None | None | None | N |
| R/Y | 0.3197 | likely_benign | 0.3621 | ambiguous | 0.36 | Stabilizing | 0.972 | D | 0.389 | 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.