Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9536 | 28831;28832;28833 | chr2:178709713;178709712;178709711 | chr2:179574440;179574439;179574438 |
| N2AB | 9219 | 27880;27881;27882 | chr2:178709713;178709712;178709711 | chr2:179574440;179574439;179574438 |
| N2A | 8292 | 25099;25100;25101 | chr2:178709713;178709712;178709711 | chr2:179574440;179574439;179574438 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | None | None | None | None | 0.19 | 0.191 | 0.492611691308 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| P/T | rs201121983  |
-0.222 | 0.001 | None | 0.147 | 0.13 | 0.28798054836 | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | I | None | 0 | 8.69E-05 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 8.85E-06 | 0 |
| P/T | rs201121983 |
-0.222 | 0.001 | None | 0.147 | 0.13 | 0.28798054836 | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | I | None | 0 | 1.96541E-04 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 2.07039E-04 | 0 |
| P/T | rs201121983 |
-0.222 | 0.001 | None | 0.147 | 0.13 | 0.28798054836 | 1000 genomes | 5.99042E-04 | None | None | None | None | I | None | 0 | 2.9E-03 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| P/T | rs201121983 |
-0.222 | 0.001 | None | 0.147 | 0.13 | 0.28798054836 | gnomAD-4.0.0 | 3.96552E-05 | None | None | None | None | I | None | 1.33259E-05 | 3.66654E-04 | None | 0 | 0 | None | 0 | 0 | 3.39034E-05 | 0 | 1.60041E-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 | 0.0714 | likely_benign | 0.0726 | benign | -0.442 | Destabilizing | 0.008 | N | 0.161 | neutral | None | None | None | None | I |
| P/C | 0.5038 | ambiguous | 0.4681 | ambiguous | -0.598 | Destabilizing | 0.667 | D | 0.335 | neutral | None | None | None | None | I |
| P/D | 0.3743 | ambiguous | 0.3612 | ambiguous | -0.474 | Destabilizing | 0.055 | N | 0.275 | neutral | None | None | None | None | I |
| P/E | 0.2159 | likely_benign | 0.2081 | benign | -0.592 | Destabilizing | None | N | 0.151 | neutral | None | None | None | None | I |
| P/F | 0.5015 | ambiguous | 0.4599 | ambiguous | -0.728 | Destabilizing | 0.497 | N | 0.438 | neutral | None | None | None | None | I |
| P/G | 0.2594 | likely_benign | 0.2622 | benign | -0.56 | Destabilizing | None | N | 0.124 | neutral | None | None | None | None | I |
| P/H | 0.171 | likely_benign | 0.17 | benign | -0.209 | Destabilizing | 0.667 | D | 0.334 | neutral | None | None | None | None | I |
| P/I | 0.3279 | likely_benign | 0.3011 | benign | -0.283 | Destabilizing | 0.124 | N | 0.429 | neutral | None | None | None | None | I |
| P/K | 0.2333 | likely_benign | 0.2346 | benign | -0.509 | Destabilizing | 0.055 | N | 0.299 | neutral | None | None | None | None | I |
| P/L | 0.1278 | likely_benign | 0.1187 | benign | -0.283 | Destabilizing | None | N | 0.19 | neutral | None | None | None | None | I |
| P/M | 0.2918 | likely_benign | 0.2769 | benign | -0.384 | Destabilizing | 0.497 | N | 0.338 | neutral | None | None | None | None | I |
| P/N | 0.2434 | likely_benign | 0.2499 | benign | -0.222 | Destabilizing | 0.055 | N | 0.319 | neutral | None | None | None | None | I |
| P/Q | 0.118 | likely_benign | 0.1175 | benign | -0.47 | Destabilizing | 0.096 | N | 0.32 | neutral | None | None | None | None | I |
| P/R | 0.1665 | likely_benign | 0.1611 | benign | 0.004 | Stabilizing | 0.175 | N | 0.401 | neutral | None | None | None | None | I |
| P/S | 0.1024 | likely_benign | 0.1064 | benign | -0.518 | Destabilizing | None | N | 0.116 | neutral | None | None | None | None | I |
| P/T | 0.0944 | likely_benign | 0.0988 | benign | -0.541 | Destabilizing | 0.001 | N | 0.147 | neutral | None | None | None | None | I |
| P/V | 0.2157 | likely_benign | 0.2039 | benign | -0.303 | Destabilizing | 0.055 | N | 0.271 | neutral | None | None | None | None | I |
| P/W | 0.6557 | likely_pathogenic | 0.6022 | pathogenic | -0.825 | Destabilizing | 0.958 | D | 0.341 | neutral | None | None | None | None | I |
| P/Y | 0.4206 | ambiguous | 0.3889 | ambiguous | -0.527 | Destabilizing | 0.859 | D | 0.416 | neutral | 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.