Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8007 | 24244;24245;24246 | chr2:178719371;178719370;178719369 | chr2:179584098;179584097;179584096 |
| N2AB | 7690 | 23293;23294;23295 | chr2:178719371;178719370;178719369 | chr2:179584098;179584097;179584096 |
| N2A | 6763 | 20512;20513;20514 | chr2:178719371;178719370;178719369 | chr2:179584098;179584097;179584096 |
| 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 | 0.362 | D | 0.512 | 0.305 | 0.504789117978 | gnomAD-4.0.0 | 6.84211E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15931E-05 | 0 |
| R/P | rs765789516  |
None | 0.736 | N | 0.589 | 0.449 | 0.438064232554 | 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 |
| R/P | rs765789516 |
None | 0.736 | N | 0.589 | 0.449 | 0.438064232554 | gnomAD-4.0.0 | 6.57523E-06 | None | None | None | None | N | None | 2.41418E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/Q | rs765789516 |
-0.27 | 0.753 | N | 0.473 | 0.174 | 0.244539031024 | gnomAD-2.1.1 | 9.65E-05 | None | None | None | None | N | None | 0 | 5.8E-05 | None | 0 | 1.11321E-04 | None | 6.20956E-04 | None | 0 | 8.88E-06 | 0 |
| R/Q | rs765789516 |
-0.27 | 0.753 | N | 0.473 | 0.174 | 0.244539031024 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07211E-04 | 0 |
| R/Q | rs765789516 |
-0.27 | 0.753 | N | 0.473 | 0.174 | 0.244539031024 | gnomAD-4.0.0 | 4.95742E-05 | None | None | None | None | N | None | 0 | 8.33278E-05 | None | 0 | 6.68837E-05 | None | 0 | 0 | 1.86482E-05 | 5.27009E-04 | 3.20123E-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 | 0.3878 | ambiguous | 0.4294 | ambiguous | -0.908 | Destabilizing | 0.228 | N | 0.459 | neutral | None | None | None | None | N |
| R/C | 0.19 | likely_benign | 0.2233 | benign | -0.869 | Destabilizing | 0.983 | D | 0.571 | neutral | None | None | None | None | N |
| R/D | 0.7195 | likely_pathogenic | 0.7652 | pathogenic | -0.173 | Destabilizing | 0.418 | N | 0.557 | neutral | None | None | None | None | N |
| R/E | 0.3542 | ambiguous | 0.3982 | ambiguous | -0.015 | Destabilizing | 0.129 | N | 0.448 | neutral | None | None | None | None | N |
| R/F | 0.4878 | ambiguous | 0.5323 | ambiguous | -0.462 | Destabilizing | 0.716 | D | 0.579 | neutral | None | None | None | None | N |
| R/G | 0.3112 | likely_benign | 0.3577 | ambiguous | -1.266 | Destabilizing | 0.362 | N | 0.512 | neutral | D | 0.529211162 | None | None | N |
| R/H | 0.0967 | likely_benign | 0.1034 | benign | -1.466 | Destabilizing | 0.002 | N | 0.227 | neutral | None | None | None | None | N |
| R/I | 0.2519 | likely_benign | 0.2867 | benign | 0.075 | Stabilizing | 0.836 | D | 0.593 | neutral | None | None | None | None | N |
| R/K | 0.0999 | likely_benign | 0.1023 | benign | -1.003 | Destabilizing | None | N | 0.197 | neutral | None | None | None | None | N |
| R/L | 0.2245 | likely_benign | 0.2547 | benign | 0.075 | Stabilizing | 0.579 | D | 0.534 | neutral | N | 0.489615411 | None | None | N |
| R/M | 0.2701 | likely_benign | 0.2995 | benign | -0.337 | Destabilizing | 0.94 | D | 0.595 | neutral | None | None | None | None | N |
| R/N | 0.5888 | likely_pathogenic | 0.6246 | pathogenic | -0.539 | Destabilizing | 0.264 | N | 0.469 | neutral | None | None | None | None | N |
| R/P | 0.845 | likely_pathogenic | 0.866 | pathogenic | -0.232 | Destabilizing | 0.736 | D | 0.589 | neutral | N | 0.520591679 | None | None | N |
| R/Q | 0.1033 | likely_benign | 0.1096 | benign | -0.581 | Destabilizing | 0.753 | D | 0.473 | neutral | N | 0.484649522 | None | None | N |
| R/S | 0.4615 | ambiguous | 0.4978 | ambiguous | -1.299 | Destabilizing | 0.228 | N | 0.491 | neutral | None | None | None | None | N |
| R/T | 0.2455 | likely_benign | 0.2685 | benign | -0.943 | Destabilizing | 0.418 | N | 0.513 | neutral | None | None | None | None | N |
| R/V | 0.3246 | likely_benign | 0.3652 | ambiguous | -0.232 | Destabilizing | 0.593 | D | 0.561 | neutral | None | None | None | None | N |
| R/W | 0.1786 | likely_benign | 0.1991 | benign | -0.063 | Destabilizing | 0.983 | D | 0.585 | neutral | None | None | None | None | N |
| R/Y | 0.3532 | ambiguous | 0.3898 | ambiguous | 0.185 | Stabilizing | 0.557 | D | 0.599 | 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.