Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19506 | 58741;58742;58743 | chr2:178593784;178593783;178593782 | chr2:179458511;179458510;179458509 |
| N2AB | 17865 | 53818;53819;53820 | chr2:178593784;178593783;178593782 | chr2:179458511;179458510;179458509 |
| N2A | 16938 | 51037;51038;51039 | chr2:178593784;178593783;178593782 | chr2:179458511;179458510;179458509 |
| N2B | 10441 | 31546;31547;31548 | chr2:178593784;178593783;178593782 | chr2:179458511;179458510;179458509 |
| Novex-1 | 10566 | 31921;31922;31923 | chr2:178593784;178593783;178593782 | chr2:179458511;179458510;179458509 |
| Novex-2 | 10633 | 32122;32123;32124 | chr2:178593784;178593783;178593782 | chr2:179458511;179458510;179458509 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs1238125586  |
-0.021 | 1.0 | N | 0.403 | 0.334 | 0.351830644314 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.68E-05 | 0 |
| D/E | rs1238125586 |
-0.021 | 1.0 | N | 0.403 | 0.334 | 0.351830644314 | gnomAD-4.0.0 | 2.87473E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.7783E-05 | 0 | 0 |
| D/G | None | None | 1.0 | N | 0.72 | 0.542 | 0.411265580357 | gnomAD-4.0.0 | 1.20037E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31255E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.725 | likely_pathogenic | 0.7101 | pathogenic | -0.236 | Destabilizing | 1.0 | D | 0.751 | deleterious | N | 0.484100534 | None | None | I |
| D/C | 0.9221 | likely_pathogenic | 0.9227 | pathogenic | 0.105 | Stabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | I |
| D/E | 0.5357 | ambiguous | 0.5661 | pathogenic | -0.248 | Destabilizing | 1.0 | D | 0.403 | neutral | N | 0.477464262 | None | None | I |
| D/F | 0.9202 | likely_pathogenic | 0.9054 | pathogenic | -0.216 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | I |
| D/G | 0.7332 | likely_pathogenic | 0.7064 | pathogenic | -0.431 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | N | 0.507484708 | None | None | I |
| D/H | 0.7763 | likely_pathogenic | 0.7692 | pathogenic | -0.123 | Destabilizing | 1.0 | D | 0.663 | neutral | N | 0.472744229 | None | None | I |
| D/I | 0.8646 | likely_pathogenic | 0.8527 | pathogenic | 0.228 | Stabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | I |
| D/K | 0.8878 | likely_pathogenic | 0.8994 | pathogenic | 0.337 | Stabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| D/L | 0.8353 | likely_pathogenic | 0.8108 | pathogenic | 0.228 | Stabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| D/M | 0.9456 | likely_pathogenic | 0.9339 | pathogenic | 0.392 | Stabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | I |
| D/N | 0.387 | ambiguous | 0.36 | ambiguous | 0.069 | Stabilizing | 1.0 | D | 0.674 | neutral | N | 0.467615667 | None | None | I |
| D/P | 0.9897 | likely_pathogenic | 0.9889 | pathogenic | 0.096 | Stabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| D/Q | 0.804 | likely_pathogenic | 0.8199 | pathogenic | 0.112 | Stabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | I |
| D/R | 0.8725 | likely_pathogenic | 0.8779 | pathogenic | 0.446 | Stabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | I |
| D/S | 0.565 | likely_pathogenic | 0.5352 | ambiguous | -0.039 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
| D/T | 0.7673 | likely_pathogenic | 0.7528 | pathogenic | 0.115 | Stabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| D/V | 0.7215 | likely_pathogenic | 0.6952 | pathogenic | 0.096 | Stabilizing | 1.0 | D | 0.772 | deleterious | N | 0.488619985 | None | None | I |
| D/W | 0.9768 | likely_pathogenic | 0.9734 | pathogenic | -0.109 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | I |
| D/Y | 0.6538 | likely_pathogenic | 0.6203 | pathogenic | 0.013 | Stabilizing | 1.0 | D | 0.683 | prob.neutral | N | 0.516457217 | 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.