Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15168 | 45727;45728;45729 | chr2:178621216;178621215;178621214 | chr2:179485943;179485942;179485941 |
| N2AB | 13527 | 40804;40805;40806 | chr2:178621216;178621215;178621214 | chr2:179485943;179485942;179485941 |
| N2A | 12600 | 38023;38024;38025 | chr2:178621216;178621215;178621214 | chr2:179485943;179485942;179485941 |
| N2B | 6103 | 18532;18533;18534 | chr2:178621216;178621215;178621214 | chr2:179485943;179485942;179485941 |
| Novex-1 | 6228 | 18907;18908;18909 | chr2:178621216;178621215;178621214 | chr2:179485943;179485942;179485941 |
| Novex-2 | 6295 | 19108;19109;19110 | chr2:178621216;178621215;178621214 | chr2:179485943;179485942;179485941 |
| 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/S | rs964218547  |
-0.512 | 0.003 | N | 0.191 | 0.272 | 0.618819884562 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 3.44828E-03 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/S | rs964218547 |
-0.512 | 0.003 | N | 0.191 | 0.272 | 0.618819884562 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 2.88351E-04 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/S | rs964218547 |
-0.512 | 0.003 | N | 0.191 | 0.272 | 0.618819884562 | gnomAD-4.0.0 | 6.58623E-06 | None | None | None | None | N | None | 0 | 0 | None | 2.88351E-04 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | rs964218547 |
None | 0.002 | N | 0.175 | 0.225 | 0.587601415916 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | rs964218547 |
None | 0.002 | N | 0.175 | 0.225 | 0.587601415916 | gnomAD-4.0.0 | 3.7216E-06 | None | None | None | None | N | None | 4.01048E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.481E-07 | 2.19717E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.3083 | likely_benign | 0.2639 | benign | -1.427 | Destabilizing | 0.061 | N | 0.256 | neutral | None | None | None | None | N |
| I/C | 0.7814 | likely_pathogenic | 0.7036 | pathogenic | -0.649 | Destabilizing | 0.94 | D | 0.383 | neutral | None | None | None | None | N |
| I/D | 0.7379 | likely_pathogenic | 0.7117 | pathogenic | -1.121 | Destabilizing | 0.418 | N | 0.433 | neutral | None | None | None | None | N |
| I/E | 0.5518 | ambiguous | 0.5107 | ambiguous | -1.169 | Destabilizing | 0.418 | N | 0.443 | neutral | None | None | None | None | N |
| I/F | 0.1413 | likely_benign | 0.126 | benign | -1.148 | Destabilizing | 0.655 | D | 0.362 | neutral | N | 0.509214071 | None | None | N |
| I/G | 0.7223 | likely_pathogenic | 0.6607 | pathogenic | -1.696 | Destabilizing | 0.264 | N | 0.416 | neutral | None | None | None | None | N |
| I/H | 0.4537 | ambiguous | 0.3935 | ambiguous | -0.992 | Destabilizing | 0.983 | D | 0.384 | neutral | None | None | None | None | N |
| I/K | 0.3375 | likely_benign | 0.3043 | benign | -1.014 | Destabilizing | 0.418 | N | 0.422 | neutral | None | None | None | None | N |
| I/L | 0.12 | likely_benign | 0.1091 | benign | -0.783 | Destabilizing | 0.001 | N | 0.103 | neutral | N | 0.469751956 | None | None | N |
| I/M | 0.1092 | likely_benign | 0.1026 | benign | -0.467 | Destabilizing | 0.655 | D | 0.393 | neutral | N | 0.503620779 | None | None | N |
| I/N | 0.3108 | likely_benign | 0.2972 | benign | -0.688 | Destabilizing | 0.351 | N | 0.451 | neutral | N | 0.507211617 | None | None | N |
| I/P | 0.9211 | likely_pathogenic | 0.9027 | pathogenic | -0.966 | Destabilizing | 0.836 | D | 0.439 | neutral | None | None | None | None | N |
| I/Q | 0.405 | ambiguous | 0.3516 | ambiguous | -0.938 | Destabilizing | 0.836 | D | 0.433 | neutral | None | None | None | None | N |
| I/R | 0.2733 | likely_benign | 0.2374 | benign | -0.342 | Destabilizing | 0.716 | D | 0.437 | neutral | None | None | None | None | N |
| I/S | 0.284 | likely_benign | 0.2452 | benign | -1.172 | Destabilizing | 0.003 | N | 0.191 | neutral | N | 0.462167614 | None | None | N |
| I/T | 0.1485 | likely_benign | 0.1347 | benign | -1.117 | Destabilizing | 0.002 | N | 0.175 | neutral | N | 0.483942484 | None | None | N |
| I/V | 0.09 | likely_benign | 0.0882 | benign | -0.966 | Destabilizing | 0.003 | N | 0.123 | neutral | N | 0.450160571 | None | None | N |
| I/W | 0.78 | likely_pathogenic | 0.7239 | pathogenic | -1.208 | Destabilizing | 0.983 | D | 0.406 | neutral | None | None | None | None | N |
| I/Y | 0.5374 | ambiguous | 0.4872 | ambiguous | -1.005 | Destabilizing | 0.94 | D | 0.415 | 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.