Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 10030 | 30313;30314;30315 | chr2:178704282;178704281;178704280 | chr2:179569009;179569008;179569007 |
| N2AB | 9713 | 29362;29363;29364 | chr2:178704282;178704281;178704280 | chr2:179569009;179569008;179569007 |
| N2A | 8786 | 26581;26582;26583 | chr2:178704282;178704281;178704280 | chr2:179569009;179569008;179569007 |
| 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/S | rs368531555  |
-0.374 | 0.642 | None | 0.313 | 0.153 | None | gnomAD-2.1.1 | 1.6E-05 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.65E-05 | 0 |
| P/S | rs368531555 |
-0.374 | 0.642 | None | 0.313 | 0.153 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| P/S | rs368531555 |
-0.374 | 0.642 | None | 0.313 | 0.153 | None | gnomAD-4.0.0 | 3.90372E-05 | None | None | None | None | N | None | 6.67432E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 4.91577E-05 | 0 | 0 |
| P/T | rs368531555 |
None | 0.642 | None | 0.325 | 0.156 | 0.387202362727 | gnomAD-4.0.0 | 6.84134E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99394E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.2036 | likely_benign | 0.1914 | benign | -0.678 | Destabilizing | 0.425 | N | 0.297 | neutral | None | None | None | None | N |
| P/C | 0.912 | likely_pathogenic | 0.9261 | pathogenic | -0.709 | Destabilizing | 0.995 | D | 0.416 | neutral | None | None | None | None | N |
| P/D | 0.8943 | likely_pathogenic | 0.8639 | pathogenic | -0.523 | Destabilizing | 0.944 | D | 0.432 | neutral | None | None | None | None | N |
| P/E | 0.7431 | likely_pathogenic | 0.7095 | pathogenic | -0.605 | Destabilizing | 0.704 | D | 0.387 | neutral | None | None | None | None | N |
| P/F | 0.8898 | likely_pathogenic | 0.8829 | pathogenic | -0.728 | Destabilizing | 0.893 | D | 0.448 | neutral | None | None | None | None | N |
| P/G | 0.7266 | likely_pathogenic | 0.7107 | pathogenic | -0.86 | Destabilizing | 0.828 | D | 0.406 | neutral | None | None | None | None | N |
| P/H | 0.6338 | likely_pathogenic | 0.6297 | pathogenic | -0.406 | Destabilizing | 0.993 | D | 0.389 | neutral | None | None | None | None | N |
| P/I | 0.5873 | likely_pathogenic | 0.5882 | pathogenic | -0.332 | Destabilizing | 0.003 | N | 0.225 | neutral | None | None | None | None | N |
| P/K | 0.7619 | likely_pathogenic | 0.7441 | pathogenic | -0.689 | Destabilizing | 0.543 | D | 0.323 | neutral | None | None | None | None | N |
| P/L | 0.2771 | likely_benign | 0.2802 | benign | -0.332 | Destabilizing | 0.002 | N | 0.224 | neutral | None | None | None | None | N |
| P/M | 0.6435 | likely_pathogenic | 0.6648 | pathogenic | -0.429 | Destabilizing | 0.176 | N | 0.249 | neutral | None | None | None | None | N |
| P/N | 0.805 | likely_pathogenic | 0.7856 | pathogenic | -0.452 | Destabilizing | 0.944 | D | 0.425 | neutral | None | None | None | None | N |
| P/Q | 0.5379 | ambiguous | 0.5227 | ambiguous | -0.661 | Destabilizing | 0.893 | D | 0.425 | neutral | None | None | None | None | N |
| P/R | 0.6295 | likely_pathogenic | 0.6023 | pathogenic | -0.168 | Destabilizing | 0.006 | N | 0.232 | neutral | None | None | None | None | N |
| P/S | 0.4399 | ambiguous | 0.4183 | ambiguous | -0.821 | Destabilizing | 0.642 | D | 0.313 | neutral | None | None | None | None | N |
| P/T | 0.3034 | likely_benign | 0.2812 | benign | -0.798 | Destabilizing | 0.642 | D | 0.325 | neutral | None | None | None | None | N |
| P/V | 0.462 | ambiguous | 0.4565 | ambiguous | -0.412 | Destabilizing | 0.329 | N | 0.305 | neutral | None | None | None | None | N |
| P/W | 0.9458 | likely_pathogenic | 0.9418 | pathogenic | -0.839 | Destabilizing | 0.995 | D | 0.447 | neutral | None | None | None | None | N |
| P/Y | 0.8651 | likely_pathogenic | 0.8475 | pathogenic | -0.548 | Destabilizing | 0.981 | D | 0.441 | 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.