Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7737 | 23434;23435;23436 | chr2:178720553;178720552;178720551 | chr2:179585280;179585279;179585278 |
| N2AB | 7420 | 22483;22484;22485 | chr2:178720553;178720552;178720551 | chr2:179585280;179585279;179585278 |
| N2A | 6493 | 19702;19703;19704 | chr2:178720553;178720552;178720551 | chr2:179585280;179585279;179585278 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | rs746599694  |
-0.192 | 0.998 | D | 0.476 | 0.479 | 0.367612772649 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.66445E-04 |
| K/E | rs746599694 |
-0.192 | 0.998 | D | 0.476 | 0.479 | 0.367612772649 | gnomAD-4.0.0 | 1.5921E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77485E-05 | None | 0 | 0 | 0 | 0 | 0 |
| K/T | rs768911832 |
-1.141 | 1.0 | N | 0.752 | 0.531 | 0.381071309025 | gnomAD-2.1.1 | 4.03E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 1.3947E-04 | 6.24E-05 | 0 |
| K/T | rs768911832 |
-1.141 | 1.0 | N | 0.752 | 0.531 | 0.381071309025 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| K/T | rs768911832 |
-1.141 | 1.0 | N | 0.752 | 0.531 | 0.381071309025 | gnomAD-4.0.0 | 1.61155E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 7.81397E-05 | 0 | 1.10206E-05 | 0 | 1.28148E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.9775 | likely_pathogenic | 0.983 | pathogenic | -0.979 | Destabilizing | 1.0 | D | 0.557 | neutral | None | None | None | None | N |
| K/C | 0.9632 | likely_pathogenic | 0.9718 | pathogenic | -1.001 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| K/D | 0.9968 | likely_pathogenic | 0.9974 | pathogenic | -0.487 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| K/E | 0.9568 | likely_pathogenic | 0.9678 | pathogenic | -0.296 | Destabilizing | 0.998 | D | 0.476 | neutral | D | 0.532906344 | None | None | N |
| K/F | 0.9823 | likely_pathogenic | 0.9836 | pathogenic | -0.496 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| K/G | 0.9863 | likely_pathogenic | 0.9895 | pathogenic | -1.415 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| K/H | 0.7419 | likely_pathogenic | 0.78 | pathogenic | -1.717 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| K/I | 0.9422 | likely_pathogenic | 0.9491 | pathogenic | 0.196 | Stabilizing | 0.999 | D | 0.864 | deleterious | N | 0.508761701 | None | None | N |
| K/L | 0.911 | likely_pathogenic | 0.9219 | pathogenic | 0.196 | Stabilizing | 0.998 | D | 0.747 | deleterious | None | None | None | None | N |
| K/M | 0.8215 | likely_pathogenic | 0.8571 | pathogenic | 0.018 | Stabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| K/N | 0.9796 | likely_pathogenic | 0.9829 | pathogenic | -0.932 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | N | 0.511915253 | None | None | N |
| K/P | 0.9978 | likely_pathogenic | 0.9984 | pathogenic | -0.168 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| K/Q | 0.6999 | likely_pathogenic | 0.7677 | pathogenic | -0.849 | Destabilizing | 0.999 | D | 0.702 | prob.neutral | N | 0.502520731 | None | None | N |
| K/R | 0.121 | likely_benign | 0.134 | benign | -0.841 | Destabilizing | 0.738 | D | 0.326 | neutral | N | 0.4597744 | None | None | N |
| K/S | 0.9854 | likely_pathogenic | 0.989 | pathogenic | -1.643 | Destabilizing | 1.0 | D | 0.545 | neutral | None | None | None | None | N |
| K/T | 0.9602 | likely_pathogenic | 0.9686 | pathogenic | -1.209 | Destabilizing | 1.0 | D | 0.752 | deleterious | N | 0.50754716 | None | None | N |
| K/V | 0.9235 | likely_pathogenic | 0.933 | pathogenic | -0.168 | Destabilizing | 0.999 | D | 0.821 | deleterious | None | None | None | None | N |
| K/W | 0.9607 | likely_pathogenic | 0.9675 | pathogenic | -0.382 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| K/Y | 0.9447 | likely_pathogenic | 0.9493 | pathogenic | -0.066 | Destabilizing | 1.0 | D | 0.857 | deleterious | 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.