Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8101 | 24526;24527;24528 | chr2:178718899;178718898;178718897 | chr2:179583626;179583625;179583624 |
| N2AB | 7784 | 23575;23576;23577 | chr2:178718899;178718898;178718897 | chr2:179583626;179583625;179583624 |
| N2A | 6857 | 20794;20795;20796 | chr2:178718899;178718898;178718897 | chr2:179583626;179583625;179583624 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/N | rs200423910  |
-1.787 | 0.295 | D | 0.806 | 0.506 | 0.819652658057 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| I/N | rs200423910 |
-1.787 | 0.295 | D | 0.806 | 0.506 | 0.819652658057 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| I/N | rs200423910 |
-1.787 | 0.295 | D | 0.806 | 0.506 | 0.819652658057 | gnomAD-4.0.0 | 1.17767E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.52587E-05 | 0 | 1.60154E-05 |
| I/T | rs200423910 |
-2.089 | 0.055 | D | 0.669 | 0.355 | 0.723157768034 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 6.48E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| I/T | rs200423910 |
-2.089 | 0.055 | D | 0.669 | 0.355 | 0.723157768034 | gnomAD-4.0.0 | 5.47475E-06 | None | None | None | None | N | None | 2.989E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 6.2969E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.8086 | likely_pathogenic | 0.8068 | pathogenic | -2.254 | Highly Destabilizing | 0.016 | N | 0.606 | neutral | None | None | None | None | N |
| I/C | 0.8523 | likely_pathogenic | 0.8671 | pathogenic | -1.273 | Destabilizing | 0.864 | D | 0.75 | deleterious | None | None | None | None | N |
| I/D | 0.9947 | likely_pathogenic | 0.9936 | pathogenic | -2.481 | Highly Destabilizing | 0.628 | D | 0.793 | deleterious | None | None | None | None | N |
| I/E | 0.9823 | likely_pathogenic | 0.9807 | pathogenic | -2.169 | Highly Destabilizing | 0.356 | N | 0.785 | deleterious | None | None | None | None | N |
| I/F | 0.1475 | likely_benign | 0.1658 | benign | -1.267 | Destabilizing | None | N | 0.194 | neutral | N | 0.491055743 | None | None | N |
| I/G | 0.9626 | likely_pathogenic | 0.9606 | pathogenic | -2.862 | Highly Destabilizing | 0.136 | N | 0.751 | deleterious | None | None | None | None | N |
| I/H | 0.9399 | likely_pathogenic | 0.9395 | pathogenic | -2.563 | Highly Destabilizing | 0.864 | D | 0.811 | deleterious | None | None | None | None | N |
| I/K | 0.9534 | likely_pathogenic | 0.949 | pathogenic | -1.468 | Destabilizing | 0.214 | N | 0.776 | deleterious | None | None | None | None | N |
| I/L | 0.1361 | likely_benign | 0.1644 | benign | -0.45 | Destabilizing | 0.001 | N | 0.358 | neutral | N | 0.509454753 | None | None | N |
| I/M | 0.1676 | likely_benign | 0.1875 | benign | -0.516 | Destabilizing | 0.001 | N | 0.294 | neutral | N | 0.511388497 | None | None | N |
| I/N | 0.9278 | likely_pathogenic | 0.9248 | pathogenic | -2.066 | Highly Destabilizing | 0.295 | N | 0.806 | deleterious | D | 0.529835147 | None | None | N |
| I/P | 0.9713 | likely_pathogenic | 0.9671 | pathogenic | -1.038 | Destabilizing | 0.628 | D | 0.807 | deleterious | None | None | None | None | N |
| I/Q | 0.943 | likely_pathogenic | 0.9405 | pathogenic | -1.715 | Destabilizing | 0.356 | N | 0.81 | deleterious | None | None | None | None | N |
| I/R | 0.9202 | likely_pathogenic | 0.9153 | pathogenic | -1.615 | Destabilizing | 0.214 | N | 0.802 | deleterious | None | None | None | None | N |
| I/S | 0.8771 | likely_pathogenic | 0.8711 | pathogenic | -2.708 | Highly Destabilizing | 0.055 | N | 0.709 | prob.delet. | N | 0.519557103 | None | None | N |
| I/T | 0.7964 | likely_pathogenic | 0.808 | pathogenic | -2.228 | Highly Destabilizing | 0.055 | N | 0.669 | neutral | D | 0.53333169 | None | None | N |
| I/V | 0.1182 | likely_benign | 0.1161 | benign | -1.038 | Destabilizing | None | N | 0.199 | neutral | N | 0.415205292 | None | None | N |
| I/W | 0.9099 | likely_pathogenic | 0.9165 | pathogenic | -1.664 | Destabilizing | 0.676 | D | 0.803 | deleterious | None | None | None | None | N |
| I/Y | 0.7556 | likely_pathogenic | 0.763 | pathogenic | -1.354 | Destabilizing | 0.038 | N | 0.679 | prob.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.