Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18843 | 56752;56753;56754 | chr2:178599266;178599265;178599264 | chr2:179463993;179463992;179463991 |
| N2AB | 17202 | 51829;51830;51831 | chr2:178599266;178599265;178599264 | chr2:179463993;179463992;179463991 |
| N2A | 16275 | 49048;49049;49050 | chr2:178599266;178599265;178599264 | chr2:179463993;179463992;179463991 |
| N2B | 9778 | 29557;29558;29559 | chr2:178599266;178599265;178599264 | chr2:179463993;179463992;179463991 |
| Novex-1 | 9903 | 29932;29933;29934 | chr2:178599266;178599265;178599264 | chr2:179463993;179463992;179463991 |
| Novex-2 | 9970 | 30133;30134;30135 | chr2:178599266;178599265;178599264 | chr2:179463993;179463992;179463991 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/K | None | -0.13 | 0.03 | N | 0.351 | 0.137 | 0.0401082797425 | gnomAD-2.1.1 | 9.02E-06 | None | None | None | None | N | None | 6.65E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.63E-06 | 0 |
| T/K | None | -0.13 | 0.03 | N | 0.351 | 0.137 | 0.0401082797425 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/K | None | -0.13 | 0.03 | N | 0.351 | 0.137 | 0.0401082797425 | gnomAD-4.0.0 | 2.52535E-06 | None | None | None | None | N | None | 2.72926E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.54756E-07 | 1.18686E-05 | 0 |
| T/M | rs755999830  |
-0.072 | 0.002 | N | 0.223 | 0.147 | 0.0986583533028 | gnomAD-2.1.1 | 2.25E-05 | None | None | None | None | N | None | 0 | 3.52E-05 | None | 0 | 0 | None | 8.18E-05 | None | 0 | 1.93E-05 | 0 |
| T/M | rs755999830 |
-0.072 | 0.002 | N | 0.223 | 0.147 | 0.0986583533028 | gnomAD-4.0.0 | 9.07816E-06 | None | None | None | None | N | None | 0 | 2.6388E-05 | None | 0 | 0 | None | 0 | 0 | 8.16725E-06 | 3.77663E-05 | 0 |
| T/R | rs755999830 |
-0.063 | 0.13 | N | 0.404 | 0.132 | 0.0920862733494 | gnomAD-2.1.1 | 4.51E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.63E-06 | 0 |
| T/R | rs755999830 |
-0.063 | 0.13 | N | 0.404 | 0.132 | 0.0920862733494 | gnomAD-4.0.0 | 1.39664E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.81494E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0839 | likely_benign | 0.081 | benign | -0.988 | Destabilizing | None | N | 0.137 | neutral | N | 0.457683846 | None | None | N |
| T/C | 0.2549 | likely_benign | 0.2398 | benign | -0.526 | Destabilizing | 0.628 | D | 0.454 | neutral | None | None | None | None | N |
| T/D | 0.392 | ambiguous | 0.3403 | ambiguous | -0.388 | Destabilizing | 0.072 | N | 0.411 | neutral | None | None | None | None | N |
| T/E | 0.2545 | likely_benign | 0.2181 | benign | -0.289 | Destabilizing | 0.016 | N | 0.351 | neutral | None | None | None | None | N |
| T/F | 0.1468 | likely_benign | 0.1403 | benign | -0.847 | Destabilizing | 0.072 | N | 0.505 | neutral | None | None | None | None | N |
| T/G | 0.2058 | likely_benign | 0.187 | benign | -1.338 | Destabilizing | 0.031 | N | 0.369 | neutral | None | None | None | None | N |
| T/H | 0.1588 | likely_benign | 0.1452 | benign | -1.505 | Destabilizing | 0.356 | N | 0.463 | neutral | None | None | None | None | N |
| T/I | 0.0862 | likely_benign | 0.0773 | benign | -0.114 | Destabilizing | None | N | 0.223 | neutral | None | None | None | None | N |
| T/K | 0.1285 | likely_benign | 0.1112 | benign | -0.52 | Destabilizing | 0.03 | N | 0.351 | neutral | N | 0.47051707 | None | None | N |
| T/L | 0.0667 | likely_benign | 0.0624 | benign | -0.114 | Destabilizing | None | N | 0.222 | neutral | None | None | None | None | N |
| T/M | 0.0712 | likely_benign | 0.0665 | benign | -0.018 | Destabilizing | 0.002 | N | 0.223 | neutral | N | 0.499031823 | None | None | N |
| T/N | 0.1108 | likely_benign | 0.1037 | benign | -0.777 | Destabilizing | 0.136 | N | 0.297 | neutral | None | None | None | None | N |
| T/P | 0.3481 | ambiguous | 0.3493 | ambiguous | -0.373 | Destabilizing | 0.106 | N | 0.453 | neutral | N | 0.51188369 | None | None | N |
| T/Q | 0.1541 | likely_benign | 0.1355 | benign | -0.731 | Destabilizing | 0.003 | N | 0.271 | neutral | None | None | None | None | N |
| T/R | 0.1038 | likely_benign | 0.0888 | benign | -0.511 | Destabilizing | 0.13 | N | 0.404 | neutral | N | 0.469476921 | None | None | N |
| T/S | 0.0943 | likely_benign | 0.0892 | benign | -1.09 | Destabilizing | 0.012 | N | 0.331 | neutral | N | 0.413716851 | None | None | N |
| T/V | 0.0855 | likely_benign | 0.0774 | benign | -0.373 | Destabilizing | 0.007 | N | 0.283 | neutral | None | None | None | None | N |
| T/W | 0.4136 | ambiguous | 0.3744 | ambiguous | -0.858 | Destabilizing | 0.864 | D | 0.473 | neutral | None | None | None | None | N |
| T/Y | 0.1914 | likely_benign | 0.1768 | benign | -0.558 | Destabilizing | 0.356 | N | 0.562 | 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.