Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32047 | 96364;96365;96366 | chr2:178544005;178544004;178544003 | chr2:179408732;179408731;179408730 |
| N2AB | 30406 | 91441;91442;91443 | chr2:178544005;178544004;178544003 | chr2:179408732;179408731;179408730 |
| N2A | 29479 | 88660;88661;88662 | chr2:178544005;178544004;178544003 | chr2:179408732;179408731;179408730 |
| N2B | 22982 | 69169;69170;69171 | chr2:178544005;178544004;178544003 | chr2:179408732;179408731;179408730 |
| Novex-1 | 23107 | 69544;69545;69546 | chr2:178544005;178544004;178544003 | chr2:179408732;179408731;179408730 |
| Novex-2 | 23174 | 69745;69746;69747 | chr2:178544005;178544004;178544003 | chr2:179408732;179408731;179408730 |
| 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/M | rs375640847  |
0.029 | 1.0 | N | 0.642 | 0.499 | None | gnomAD-2.1.1 | 3.93E-05 | None | None | None | None | N | None | 4.13E-05 | 0 | None | 0 | 5.12E-05 | None | 9.8E-05 | None | 0 | 4.68E-05 | 0 |
| T/M | rs375640847 |
0.029 | 1.0 | N | 0.642 | 0.499 | None | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 2.42E-05 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 2.07469E-04 | 0 |
| T/M | rs375640847 |
0.029 | 1.0 | N | 0.642 | 0.499 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| T/M | rs375640847 |
0.029 | 1.0 | N | 0.642 | 0.499 | None | gnomAD-4.0.0 | 3.40851E-05 | None | None | None | None | N | None | 2.66752E-05 | 1.667E-05 | None | 0 | 0 | None | 0 | 0 | 3.47544E-05 | 8.78445E-05 | 4.80231E-05 |
| T/R | None | None | 0.999 | D | 0.657 | 0.454 | 0.563099480232 | gnomAD-4.0.0 | 6.84258E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15937E-05 | 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 | 0.0911 | likely_benign | 0.0884 | benign | -0.736 | Destabilizing | 0.219 | N | 0.251 | neutral | N | 0.49848112 | None | None | N |
| T/C | 0.2953 | likely_benign | 0.2957 | benign | -0.497 | Destabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | N |
| T/D | 0.5438 | ambiguous | 0.5319 | ambiguous | 0.161 | Stabilizing | 0.996 | D | 0.617 | neutral | None | None | None | None | N |
| T/E | 0.3637 | ambiguous | 0.3556 | ambiguous | 0.17 | Stabilizing | 0.985 | D | 0.605 | neutral | None | None | None | None | N |
| T/F | 0.2174 | likely_benign | 0.2019 | benign | -0.877 | Destabilizing | 0.999 | D | 0.714 | prob.delet. | None | None | None | None | N |
| T/G | 0.2749 | likely_benign | 0.2683 | benign | -0.982 | Destabilizing | 0.985 | D | 0.647 | neutral | None | None | None | None | N |
| T/H | 0.1496 | likely_benign | 0.1598 | benign | -1.122 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| T/I | 0.1382 | likely_benign | 0.128 | benign | -0.176 | Destabilizing | 0.998 | D | 0.627 | neutral | None | None | None | None | N |
| T/K | 0.1277 | likely_benign | 0.1308 | benign | -0.494 | Destabilizing | 0.992 | D | 0.607 | neutral | N | 0.490364773 | None | None | N |
| T/L | 0.101 | likely_benign | 0.0953 | benign | -0.176 | Destabilizing | 0.985 | D | 0.579 | neutral | None | None | None | None | N |
| T/M | 0.0998 | likely_benign | 0.0968 | benign | -0.122 | Destabilizing | 1.0 | D | 0.642 | neutral | N | 0.511776437 | None | None | N |
| T/N | 0.1277 | likely_benign | 0.1316 | benign | -0.513 | Destabilizing | 0.996 | D | 0.541 | neutral | None | None | None | None | N |
| T/P | 0.7192 | likely_pathogenic | 0.68 | pathogenic | -0.33 | Destabilizing | 0.997 | D | 0.659 | neutral | D | 0.558353747 | None | None | N |
| T/Q | 0.177 | likely_benign | 0.1815 | benign | -0.6 | Destabilizing | 0.998 | D | 0.668 | neutral | None | None | None | None | N |
| T/R | 0.1098 | likely_benign | 0.1094 | benign | -0.284 | Destabilizing | 0.999 | D | 0.657 | neutral | D | 0.531635392 | None | None | N |
| T/S | 0.0997 | likely_benign | 0.1011 | benign | -0.817 | Destabilizing | 0.659 | D | 0.38 | neutral | N | 0.515161643 | None | None | N |
| T/V | 0.1256 | likely_benign | 0.1185 | benign | -0.33 | Destabilizing | 0.985 | D | 0.547 | neutral | None | None | None | None | N |
| T/W | 0.5606 | ambiguous | 0.5371 | ambiguous | -0.838 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| T/Y | 0.2344 | likely_benign | 0.2319 | benign | -0.572 | Destabilizing | 0.999 | D | 0.719 | prob.delet. | 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.