Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9582 | 28969;28970;28971 | chr2:178709575;178709574;178709573 | chr2:179574302;179574301;179574300 |
| N2AB | 9265 | 28018;28019;28020 | chr2:178709575;178709574;178709573 | chr2:179574302;179574301;179574300 |
| N2A | 8338 | 25237;25238;25239 | chr2:178709575;178709574;178709573 | chr2:179574302;179574301;179574300 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/F | rs537805395  |
-0.752 | 0.828 | None | 0.361 | 0.22 | 0.458644561121 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92456E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/F | rs537805395 |
-0.752 | 0.828 | None | 0.361 | 0.22 | 0.458644561121 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| V/F | rs537805395 |
-0.752 | 0.828 | None | 0.361 | 0.22 | 0.458644561121 | gnomAD-4.0.0 | 6.56806E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.92901E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs537805395 |
-0.165 | 0.009 | None | 0.146 | 0.102 | 0.156986980423 | gnomAD-2.1.1 | 1.62E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.29E-05 | None | 0 | 2.69E-05 | 0 |
| V/I | rs537805395 |
-0.165 | 0.009 | None | 0.146 | 0.102 | 0.156986980423 | gnomAD-4.0.0 | 1.58394E-05 | None | None | None | None | N | None | 3.00391E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.72111E-05 | 3.49138E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3178 | likely_benign | 0.2264 | benign | -1.197 | Destabilizing | 0.047 | N | 0.209 | neutral | None | None | None | None | N |
| V/C | 0.8726 | likely_pathogenic | 0.7995 | pathogenic | -0.87 | Destabilizing | 0.983 | D | 0.323 | neutral | None | None | None | None | N |
| V/D | 0.6257 | likely_pathogenic | 0.435 | ambiguous | -0.761 | Destabilizing | 0.351 | N | 0.359 | neutral | None | None | None | None | N |
| V/E | 0.4908 | ambiguous | 0.3472 | ambiguous | -0.8 | Destabilizing | 0.418 | N | 0.311 | neutral | None | None | None | None | N |
| V/F | 0.204 | likely_benign | 0.1552 | benign | -0.965 | Destabilizing | 0.828 | D | 0.361 | neutral | None | None | None | None | N |
| V/G | 0.4461 | ambiguous | 0.317 | benign | -1.461 | Destabilizing | 0.002 | N | 0.277 | neutral | None | None | None | None | N |
| V/H | 0.6836 | likely_pathogenic | 0.5462 | ambiguous | -0.929 | Destabilizing | 0.005 | N | 0.305 | neutral | None | None | None | None | N |
| V/I | 0.0809 | likely_benign | 0.0759 | benign | -0.598 | Destabilizing | 0.009 | N | 0.146 | neutral | None | None | None | None | N |
| V/K | 0.5431 | ambiguous | 0.4098 | ambiguous | -0.98 | Destabilizing | 0.418 | N | 0.344 | neutral | None | None | None | None | N |
| V/L | 0.2048 | likely_benign | 0.1698 | benign | -0.598 | Destabilizing | 0.002 | N | 0.093 | neutral | None | None | None | None | N |
| V/M | 0.175 | likely_benign | 0.1383 | benign | -0.504 | Destabilizing | 0.716 | D | 0.395 | neutral | None | None | None | None | N |
| V/N | 0.4234 | ambiguous | 0.2984 | benign | -0.733 | Destabilizing | 0.418 | N | 0.359 | neutral | None | None | None | None | N |
| V/P | 0.9685 | likely_pathogenic | 0.94 | pathogenic | -0.762 | Destabilizing | 0.836 | D | 0.365 | neutral | None | None | None | None | N |
| V/Q | 0.4756 | ambiguous | 0.3614 | ambiguous | -0.938 | Destabilizing | 0.836 | D | 0.356 | neutral | None | None | None | None | N |
| V/R | 0.461 | ambiguous | 0.3387 | benign | -0.443 | Destabilizing | 0.716 | D | 0.391 | neutral | None | None | None | None | N |
| V/S | 0.3404 | ambiguous | 0.2365 | benign | -1.248 | Destabilizing | 0.012 | N | 0.192 | neutral | None | None | None | None | N |
| V/T | 0.2642 | likely_benign | 0.1991 | benign | -1.182 | Destabilizing | 0.264 | N | 0.248 | neutral | None | None | None | None | N |
| V/W | 0.9008 | likely_pathogenic | 0.8358 | pathogenic | -1.078 | Destabilizing | 0.983 | D | 0.399 | neutral | None | None | None | None | N |
| V/Y | 0.6609 | likely_pathogenic | 0.5596 | ambiguous | -0.802 | Destabilizing | 0.716 | D | 0.357 | 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.