Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16947 | 51064;51065;51066 | chr2:178611390;178611389;178611388 | chr2:179476117;179476116;179476115 |
| N2AB | 15306 | 46141;46142;46143 | chr2:178611390;178611389;178611388 | chr2:179476117;179476116;179476115 |
| N2A | 14379 | 43360;43361;43362 | chr2:178611390;178611389;178611388 | chr2:179476117;179476116;179476115 |
| N2B | 7882 | 23869;23870;23871 | chr2:178611390;178611389;178611388 | chr2:179476117;179476116;179476115 |
| Novex-1 | 8007 | 24244;24245;24246 | chr2:178611390;178611389;178611388 | chr2:179476117;179476116;179476115 |
| Novex-2 | 8074 | 24445;24446;24447 | chr2:178611390;178611389;178611388 | chr2:179476117;179476116;179476115 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/L | rs765033370  |
-0.496 | 0.278 | N | 0.442 | 0.125 | 0.283761946502 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.68E-05 | 0 |
| V/L | rs765033370 |
-0.496 | 0.278 | N | 0.442 | 0.125 | 0.283761946502 | gnomAD-4.0.0 | 4.78022E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.58512E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.217 | likely_benign | 0.2226 | benign | -1.186 | Destabilizing | 0.61 | D | 0.456 | neutral | N | 0.45053202 | None | None | N |
| V/C | 0.6983 | likely_pathogenic | 0.7035 | pathogenic | -0.772 | Destabilizing | 0.995 | D | 0.627 | neutral | None | None | None | None | N |
| V/D | 0.5451 | ambiguous | 0.5753 | pathogenic | -0.97 | Destabilizing | 0.976 | D | 0.793 | deleterious | N | 0.46568659 | None | None | N |
| V/E | 0.3594 | ambiguous | 0.4044 | ambiguous | -1.03 | Destabilizing | 0.982 | D | 0.625 | neutral | None | None | None | None | N |
| V/F | 0.1387 | likely_benign | 0.1395 | benign | -1.083 | Destabilizing | 0.002 | N | 0.297 | neutral | N | 0.408068441 | None | None | N |
| V/G | 0.3411 | ambiguous | 0.3547 | ambiguous | -1.433 | Destabilizing | 0.93 | D | 0.721 | deleterious | N | 0.46568659 | None | None | N |
| V/H | 0.5326 | ambiguous | 0.5655 | pathogenic | -0.95 | Destabilizing | 0.995 | D | 0.804 | deleterious | None | None | None | None | N |
| V/I | 0.0793 | likely_benign | 0.0754 | benign | -0.638 | Destabilizing | 0.278 | N | 0.523 | neutral | N | 0.445824012 | None | None | N |
| V/K | 0.34 | likely_benign | 0.3883 | ambiguous | -0.975 | Destabilizing | 0.982 | D | 0.657 | prob.neutral | None | None | None | None | N |
| V/L | 0.2074 | likely_benign | 0.1981 | benign | -0.638 | Destabilizing | 0.278 | N | 0.442 | neutral | N | 0.445430326 | None | None | N |
| V/M | 0.1574 | likely_benign | 0.1483 | benign | -0.443 | Destabilizing | 0.946 | D | 0.543 | neutral | None | None | None | None | N |
| V/N | 0.3725 | ambiguous | 0.3817 | ambiguous | -0.674 | Destabilizing | 0.982 | D | 0.82 | deleterious | None | None | None | None | N |
| V/P | 0.6631 | likely_pathogenic | 0.6625 | pathogenic | -0.785 | Destabilizing | 0.982 | D | 0.721 | deleterious | None | None | None | None | N |
| V/Q | 0.3152 | likely_benign | 0.353 | ambiguous | -0.923 | Destabilizing | 0.982 | D | 0.743 | deleterious | None | None | None | None | N |
| V/R | 0.3014 | likely_benign | 0.3518 | ambiguous | -0.382 | Destabilizing | 0.982 | D | 0.822 | deleterious | None | None | None | None | N |
| V/S | 0.2698 | likely_benign | 0.2862 | benign | -1.128 | Destabilizing | 0.946 | D | 0.645 | neutral | None | None | None | None | N |
| V/T | 0.1653 | likely_benign | 0.1747 | benign | -1.086 | Destabilizing | 0.834 | D | 0.508 | neutral | None | None | None | None | N |
| V/W | 0.7627 | likely_pathogenic | 0.7682 | pathogenic | -1.196 | Destabilizing | 0.995 | D | 0.804 | deleterious | None | None | None | None | N |
| V/Y | 0.4978 | ambiguous | 0.5103 | ambiguous | -0.921 | Destabilizing | 0.553 | D | 0.617 | 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.