Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15882 | 47869;47870;47871 | chr2:178617441;178617440;178617439 | chr2:179482168;179482167;179482166 |
| N2AB | 14241 | 42946;42947;42948 | chr2:178617441;178617440;178617439 | chr2:179482168;179482167;179482166 |
| N2A | 13314 | 40165;40166;40167 | chr2:178617441;178617440;178617439 | chr2:179482168;179482167;179482166 |
| N2B | 6817 | 20674;20675;20676 | chr2:178617441;178617440;178617439 | chr2:179482168;179482167;179482166 |
| Novex-1 | 6942 | 21049;21050;21051 | chr2:178617441;178617440;178617439 | chr2:179482168;179482167;179482166 |
| Novex-2 | 7009 | 21250;21251;21252 | chr2:178617441;178617440;178617439 | chr2:179482168;179482167;179482166 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs1425908913  |
-0.576 | 0.978 | D | 0.643 | 0.497 | 0.546478894215 | gnomAD-2.1.1 | 4.36E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.84E-05 | None | 0 | 0 | 0 |
| P/L | rs1425908913 |
-0.576 | 0.978 | D | 0.643 | 0.497 | 0.546478894215 | gnomAD-4.0.0 | 3.26721E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.89756E-06 | 1.52816E-05 | 0 |
| P/S | rs1165988992 |
-2.389 | 0.956 | N | 0.478 | 0.366 | 0.344251166708 | gnomAD-2.1.1 | 4.36E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.83E-05 | None | 0 | 0 | 0 |
| P/S | rs1165988992 |
-2.389 | 0.956 | N | 0.478 | 0.366 | 0.344251166708 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/S | rs1165988992 |
-2.389 | 0.956 | N | 0.478 | 0.366 | 0.344251166708 | gnomAD-4.0.0 | 3.13029E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.40435E-06 | 1.15266E-05 | 0 |
| P/T | rs1165988992 |
None | 0.198 | N | 0.323 | 0.217 | 0.28297238246 | gnomAD-4.0.0 | 6.91826E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.67527E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0705 | likely_benign | 0.0847 | benign | -1.924 | Destabilizing | 0.978 | D | 0.489 | neutral | N | 0.48703533 | None | None | I |
| P/C | 0.4185 | ambiguous | 0.5489 | ambiguous | -1.305 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| P/D | 0.4699 | ambiguous | 0.6346 | pathogenic | -2.445 | Highly Destabilizing | 0.998 | D | 0.57 | neutral | None | None | None | None | I |
| P/E | 0.2372 | likely_benign | 0.3223 | benign | -2.282 | Highly Destabilizing | 0.998 | D | 0.564 | neutral | None | None | None | None | I |
| P/F | 0.4291 | ambiguous | 0.5847 | pathogenic | -1.307 | Destabilizing | 0.999 | D | 0.736 | prob.delet. | None | None | None | None | I |
| P/G | 0.3271 | likely_benign | 0.4389 | ambiguous | -2.359 | Highly Destabilizing | 0.992 | D | 0.583 | neutral | None | None | None | None | I |
| P/H | 0.1976 | likely_benign | 0.2733 | benign | -1.861 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | D | 0.608757882 | None | None | I |
| P/I | 0.1947 | likely_benign | 0.2634 | benign | -0.74 | Destabilizing | 0.995 | D | 0.705 | prob.neutral | None | None | None | None | I |
| P/K | 0.1677 | likely_benign | 0.2008 | benign | -1.734 | Destabilizing | 0.995 | D | 0.577 | neutral | None | None | None | None | I |
| P/L | 0.0958 | likely_benign | 0.1337 | benign | -0.74 | Destabilizing | 0.978 | D | 0.643 | neutral | D | 0.578076767 | None | None | I |
| P/M | 0.1995 | likely_benign | 0.267 | benign | -0.632 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | None | I |
| P/N | 0.3149 | likely_benign | 0.4669 | ambiguous | -1.928 | Destabilizing | 0.998 | D | 0.655 | neutral | None | None | None | None | I |
| P/Q | 0.1324 | likely_benign | 0.1719 | benign | -1.894 | Destabilizing | 0.999 | D | 0.618 | neutral | None | None | None | None | I |
| P/R | 0.1453 | likely_benign | 0.176 | benign | -1.385 | Destabilizing | 0.997 | D | 0.669 | neutral | N | 0.488305514 | None | None | I |
| P/S | 0.1333 | likely_benign | 0.1921 | benign | -2.444 | Highly Destabilizing | 0.956 | D | 0.478 | neutral | N | 0.48526871 | None | None | I |
| P/T | 0.0967 | likely_benign | 0.126 | benign | -2.15 | Highly Destabilizing | 0.198 | N | 0.323 | neutral | N | 0.492859487 | None | None | I |
| P/V | 0.1457 | likely_benign | 0.1788 | benign | -1.108 | Destabilizing | 0.983 | D | 0.572 | neutral | None | None | None | None | I |
| P/W | 0.6646 | likely_pathogenic | 0.786 | pathogenic | -1.679 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | None | I |
| P/Y | 0.3895 | ambiguous | 0.519 | ambiguous | -1.309 | Destabilizing | 0.999 | D | 0.735 | prob.delet. | None | None | None | None | I |
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.