Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15002 | 45229;45230;45231 | chr2:178621918;178621917;178621916 | chr2:179486645;179486644;179486643 |
| N2AB | 13361 | 40306;40307;40308 | chr2:178621918;178621917;178621916 | chr2:179486645;179486644;179486643 |
| N2A | 12434 | 37525;37526;37527 | chr2:178621918;178621917;178621916 | chr2:179486645;179486644;179486643 |
| N2B | 5937 | 18034;18035;18036 | chr2:178621918;178621917;178621916 | chr2:179486645;179486644;179486643 |
| Novex-1 | 6062 | 18409;18410;18411 | chr2:178621918;178621917;178621916 | chr2:179486645;179486644;179486643 |
| Novex-2 | 6129 | 18610;18611;18612 | chr2:178621918;178621917;178621916 | chr2:179486645;179486644;179486643 |
| 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/Q | rs1450027251  |
0.333 | 1.0 | N | 0.736 | 0.367 | 0.166414681773 | gnomAD-4.0.0 | 1.59496E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86405E-06 | 0 | 0 |
| K/R | None | None | 0.999 | N | 0.619 | 0.296 | 0.222439326576 | gnomAD-4.0.0 | 2.7396E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.60017E-06 | 0 | 0 |
| K/T | rs1201766795 |
0.046 | 1.0 | N | 0.691 | 0.519 | 0.371157983038 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| K/T | rs1201766795 |
0.046 | 1.0 | N | 0.691 | 0.519 | 0.371157983038 | gnomAD-4.0.0 | 6.849E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16034E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.7291 | likely_pathogenic | 0.7432 | pathogenic | -0.124 | Destabilizing | 0.999 | D | 0.671 | neutral | None | None | None | None | N |
| K/C | 0.9153 | likely_pathogenic | 0.9267 | pathogenic | -0.084 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| K/D | 0.7516 | likely_pathogenic | 0.7805 | pathogenic | 0.017 | Stabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| K/E | 0.5283 | ambiguous | 0.5461 | ambiguous | 0.068 | Stabilizing | 0.999 | D | 0.673 | neutral | N | 0.442420042 | None | None | N |
| K/F | 0.9612 | likely_pathogenic | 0.9667 | pathogenic | -0.048 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| K/G | 0.7022 | likely_pathogenic | 0.7228 | pathogenic | -0.419 | Destabilizing | 1.0 | D | 0.639 | neutral | None | None | None | None | N |
| K/H | 0.4499 | ambiguous | 0.4891 | ambiguous | -0.786 | Destabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | N |
| K/I | 0.868 | likely_pathogenic | 0.8733 | pathogenic | 0.601 | Stabilizing | 1.0 | D | 0.708 | prob.delet. | D | 0.527376818 | None | None | N |
| K/L | 0.8058 | likely_pathogenic | 0.8194 | pathogenic | 0.601 | Stabilizing | 1.0 | D | 0.639 | neutral | None | None | None | None | N |
| K/M | 0.7271 | likely_pathogenic | 0.734 | pathogenic | 0.461 | Stabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | N |
| K/N | 0.6152 | likely_pathogenic | 0.6594 | pathogenic | 0.105 | Stabilizing | 1.0 | D | 0.751 | deleterious | N | 0.440530698 | None | None | N |
| K/P | 0.928 | likely_pathogenic | 0.9443 | pathogenic | 0.39 | Stabilizing | 1.0 | D | 0.675 | prob.neutral | None | None | None | None | N |
| K/Q | 0.3071 | likely_benign | 0.3233 | benign | -0.031 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | N | 0.455119394 | None | None | N |
| K/R | 0.1002 | likely_benign | 0.1048 | benign | -0.241 | Destabilizing | 0.999 | D | 0.619 | neutral | N | 0.448083538 | None | None | N |
| K/S | 0.6988 | likely_pathogenic | 0.7219 | pathogenic | -0.424 | Destabilizing | 0.999 | D | 0.701 | prob.neutral | None | None | None | None | N |
| K/T | 0.5674 | likely_pathogenic | 0.5571 | ambiguous | -0.198 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | N | 0.509963847 | None | None | N |
| K/V | 0.8224 | likely_pathogenic | 0.8301 | pathogenic | 0.39 | Stabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| K/W | 0.9359 | likely_pathogenic | 0.9435 | pathogenic | -0.005 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| K/Y | 0.8515 | likely_pathogenic | 0.8695 | pathogenic | 0.304 | Stabilizing | 1.0 | D | 0.667 | 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.