Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3102 | 9529;9530;9531 | chr2:178768015;178768014;178767924 | chr2:179632742;179632741;179632651 |
| N2AB | 3102 | 9529;9530;9531 | chr2:178768015;178768014;178767924 | chr2:179632742;179632741;179632651 |
| N2A | 3102 | 9529;9530;9531 | chr2:178768015;178768014;178767924 | chr2:179632742;179632741;179632651 |
| N2B | 3056 | 9391;9392;9393 | chr2:178768015;178768014;178767924 | chr2:179632742;179632741;179632651 |
| Novex-1 | 3056 | 9391;9392;9393 | chr2:178768015;178768014;178767924 | chr2:179632742;179632741;179632651 |
| Novex-2 | 3056 | 9391;9392;9393 | chr2:178768015;178768014;178767924 | chr2:179632742;179632741;179632651 |
| Novex-3 | 3102 | 9529;9530;9531 | chr2:178768015;178768014;178767924 | chr2:179632742;179632741;179632651 |
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 | 0.996 | D | 0.435 | 0.624 | 0.690363523209 | gnomAD-4.0.0 | 1.59055E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02151E-05 |
| R/K | None | None | 0.991 | N | 0.399 | 0.357 | 0.394384168047 | gnomAD-4.0.0 | 1.59056E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85651E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.7815 | likely_pathogenic | 0.8427 | pathogenic | -0.633 | Destabilizing | 0.983 | D | 0.385 | neutral | None | None | None | None | N |
| R/C | 0.5959 | likely_pathogenic | 0.6917 | pathogenic | -0.638 | Destabilizing | 1.0 | D | 0.565 | neutral | None | None | None | None | N |
| R/D | 0.8415 | likely_pathogenic | 0.8809 | pathogenic | 0.153 | Stabilizing | 0.999 | D | 0.491 | neutral | None | None | None | None | N |
| R/E | 0.6607 | likely_pathogenic | 0.7519 | pathogenic | 0.28 | Stabilizing | 0.997 | D | 0.401 | neutral | None | None | None | None | N |
| R/F | 0.888 | likely_pathogenic | 0.9233 | pathogenic | -0.467 | Destabilizing | 0.998 | D | 0.562 | neutral | None | None | None | None | N |
| R/G | 0.5863 | likely_pathogenic | 0.6904 | pathogenic | -0.937 | Destabilizing | 0.996 | D | 0.435 | neutral | D | 0.609079257 | None | None | N |
| R/H | 0.2332 | likely_benign | 0.2887 | benign | -1.2 | Destabilizing | 1.0 | D | 0.417 | neutral | None | None | None | None | N |
| R/I | 0.6517 | likely_pathogenic | 0.7443 | pathogenic | 0.18 | Stabilizing | 0.956 | D | 0.495 | neutral | D | 0.704356494 | None | None | N |
| R/K | 0.2325 | likely_benign | 0.2759 | benign | -0.557 | Destabilizing | 0.991 | D | 0.399 | neutral | N | 0.511398345 | None | None | N |
| R/L | 0.6347 | likely_pathogenic | 0.7174 | pathogenic | 0.18 | Stabilizing | 0.967 | D | 0.353 | neutral | None | None | None | None | N |
| R/M | 0.6818 | likely_pathogenic | 0.7935 | pathogenic | -0.255 | Destabilizing | 0.998 | D | 0.463 | neutral | None | None | None | None | N |
| R/N | 0.7895 | likely_pathogenic | 0.8321 | pathogenic | -0.123 | Destabilizing | 0.999 | D | 0.432 | neutral | None | None | None | None | N |
| R/P | 0.9398 | likely_pathogenic | 0.9505 | pathogenic | -0.07 | Destabilizing | 0.999 | D | 0.49 | neutral | None | None | None | None | N |
| R/Q | 0.2235 | likely_benign | 0.2973 | benign | -0.25 | Destabilizing | 0.999 | D | 0.466 | neutral | None | None | None | None | N |
| R/S | 0.8194 | likely_pathogenic | 0.8676 | pathogenic | -0.875 | Destabilizing | 0.997 | D | 0.433 | neutral | D | 0.633178375 | None | None | N |
| R/T | 0.5878 | likely_pathogenic | 0.6961 | pathogenic | -0.564 | Destabilizing | 0.978 | D | 0.446 | neutral | D | 0.615315036 | None | None | N |
| R/V | 0.7602 | likely_pathogenic | 0.8226 | pathogenic | -0.07 | Destabilizing | 0.437 | N | 0.329 | neutral | None | None | None | None | N |
| R/W | 0.49 | ambiguous | 0.6179 | pathogenic | -0.168 | Destabilizing | 1.0 | D | 0.598 | neutral | None | None | None | None | N |
| R/Y | 0.7695 | likely_pathogenic | 0.8298 | pathogenic | 0.135 | Stabilizing | 0.999 | D | 0.498 | 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.