Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7638 | 23137;23138;23139 | chr2:178721107;178721106;178721105 | chr2:179585834;179585833;179585832 |
| N2AB | 7321 | 22186;22187;22188 | chr2:178721107;178721106;178721105 | chr2:179585834;179585833;179585832 |
| N2A | 6394 | 19405;19406;19407 | chr2:178721107;178721106;178721105 | chr2:179585834;179585833;179585832 |
| 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 | rs1266131698  |
-2.194 | 0.994 | N | 0.743 | 0.449 | 0.885801658293 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/N | rs1266131698 |
-2.194 | 0.994 | N | 0.743 | 0.449 | 0.885801658293 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/N | rs1266131698 |
-2.194 | 0.994 | N | 0.743 | 0.449 | 0.885801658293 | gnomAD-4.0.0 | 2.56364E-06 | None | None | None | None | N | None | 0 | 3.3896E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | rs1489491529 |
-1.623 | 0.589 | N | 0.447 | 0.174 | 0.488477830397 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| I/V | rs1489491529 |
-1.623 | 0.589 | N | 0.447 | 0.174 | 0.488477830397 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-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 | 0.9023 | likely_pathogenic | 0.9433 | pathogenic | -2.421 | Highly Destabilizing | 0.924 | D | 0.555 | neutral | None | None | None | None | N |
| I/C | 0.9619 | likely_pathogenic | 0.9783 | pathogenic | -1.623 | Destabilizing | 1.0 | D | 0.637 | neutral | None | None | None | None | N |
| I/D | 0.9878 | likely_pathogenic | 0.9937 | pathogenic | -2.567 | Highly Destabilizing | 0.995 | D | 0.728 | prob.delet. | None | None | None | None | N |
| I/E | 0.9733 | likely_pathogenic | 0.9849 | pathogenic | -2.417 | Highly Destabilizing | 0.993 | D | 0.724 | prob.delet. | None | None | None | None | N |
| I/F | 0.5708 | likely_pathogenic | 0.7076 | pathogenic | -1.521 | Destabilizing | 0.997 | D | 0.609 | neutral | N | 0.489744934 | None | None | N |
| I/G | 0.9679 | likely_pathogenic | 0.984 | pathogenic | -2.911 | Highly Destabilizing | 0.995 | D | 0.705 | prob.neutral | None | None | None | None | N |
| I/H | 0.975 | likely_pathogenic | 0.9879 | pathogenic | -2.345 | Highly Destabilizing | 0.999 | D | 0.717 | prob.delet. | None | None | None | None | N |
| I/K | 0.9412 | likely_pathogenic | 0.9711 | pathogenic | -1.83 | Destabilizing | 0.858 | D | 0.725 | prob.delet. | None | None | None | None | N |
| I/L | 0.2228 | likely_benign | 0.3754 | ambiguous | -1.042 | Destabilizing | 0.521 | D | 0.431 | neutral | N | 0.458500283 | None | None | N |
| I/M | 0.1692 | likely_benign | 0.2656 | benign | -0.86 | Destabilizing | 0.991 | D | 0.558 | neutral | N | 0.510470686 | None | None | N |
| I/N | 0.8459 | likely_pathogenic | 0.9125 | pathogenic | -1.923 | Destabilizing | 0.994 | D | 0.743 | deleterious | N | 0.516749959 | None | None | N |
| I/P | 0.8498 | likely_pathogenic | 0.884 | pathogenic | -1.479 | Destabilizing | 0.998 | D | 0.753 | deleterious | None | None | None | None | N |
| I/Q | 0.9487 | likely_pathogenic | 0.9754 | pathogenic | -1.914 | Destabilizing | 0.994 | D | 0.755 | deleterious | None | None | None | None | N |
| I/R | 0.9307 | likely_pathogenic | 0.9652 | pathogenic | -1.415 | Destabilizing | 0.994 | D | 0.755 | deleterious | None | None | None | None | N |
| I/S | 0.9164 | likely_pathogenic | 0.9567 | pathogenic | -2.589 | Highly Destabilizing | 0.632 | D | 0.449 | neutral | N | 0.486617836 | None | None | N |
| I/T | 0.9024 | likely_pathogenic | 0.9427 | pathogenic | -2.304 | Highly Destabilizing | 0.869 | D | 0.631 | neutral | N | 0.484149074 | None | None | N |
| I/V | 0.2056 | likely_benign | 0.2527 | benign | -1.479 | Destabilizing | 0.589 | D | 0.447 | neutral | N | 0.515972506 | None | None | N |
| I/W | 0.9652 | likely_pathogenic | 0.9848 | pathogenic | -1.855 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| I/Y | 0.9045 | likely_pathogenic | 0.9496 | pathogenic | -1.595 | Destabilizing | 0.983 | D | 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.