Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5517 | 16774;16775;16776 | chr2:178732512;178732511;178732510 | chr2:179597239;179597238;179597237 |
| N2AB | 5200 | 15823;15824;15825 | chr2:178732512;178732511;178732510 | chr2:179597239;179597238;179597237 |
| N2A | 4273 | 13042;13043;13044 | chr2:178732512;178732511;178732510 | chr2:179597239;179597238;179597237 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | rs200520316  |
-0.951 | 0.987 | N | 0.45 | 0.247 | None | gnomAD-2.1.1 | 8.86E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 7.19142E-04 | None | 0 | 0 | 0 |
| S/A | rs200520316 |
-0.951 | 0.987 | N | 0.45 | 0.247 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.14422E-04 | 0 |
| S/A | rs200520316 |
-0.951 | 0.987 | N | 0.45 | 0.247 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| S/A | rs200520316 |
-0.951 | 0.987 | N | 0.45 | 0.247 | None | gnomAD-4.0.0 | 4.70959E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.65125E-04 | 8.47642E-07 | 7.79586E-04 | 4.80215E-05 |
| S/L | rs769165258 |
-0.241 | 0.998 | N | 0.592 | 0.43 | 0.776151870229 | gnomAD-2.1.1 | 5.36E-05 | None | None | None | None | N | None | 8.27E-05 | 2.26629E-04 | None | 0 | 2.05592E-04 | None | 3.27E-05 | None | 0 | 0 | 0 |
| S/L | rs769165258 |
-0.241 | 0.998 | N | 0.592 | 0.43 | 0.776151870229 | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | N | None | 1.20662E-04 | 6.55E-05 | 0 | 0 | 1.92827E-04 | None | 0 | 0 | 0 | 0 | 0 |
| S/L | rs769165258 |
-0.241 | 0.998 | N | 0.592 | 0.43 | 0.776151870229 | gnomAD-4.0.0 | 1.92126E-05 | None | None | None | None | N | None | 8.01025E-05 | 1.66756E-04 | None | 0 | 1.78396E-04 | None | 0 | 0 | 3.39064E-06 | 3.29439E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0802 | likely_benign | 0.086 | benign | -1.001 | Destabilizing | 0.987 | D | 0.45 | neutral | N | 0.486401748 | None | None | N |
| S/C | 0.1758 | likely_benign | 0.2102 | benign | -0.57 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| S/D | 0.6475 | likely_pathogenic | 0.7205 | pathogenic | 0.255 | Stabilizing | 1.0 | D | 0.509 | neutral | None | None | None | None | N |
| S/E | 0.6924 | likely_pathogenic | 0.7462 | pathogenic | 0.246 | Stabilizing | 0.999 | D | 0.472 | neutral | None | None | None | None | N |
| S/F | 0.3926 | ambiguous | 0.4647 | ambiguous | -1.325 | Destabilizing | 0.995 | D | 0.689 | prob.neutral | None | None | None | None | N |
| S/G | 0.0963 | likely_benign | 0.1155 | benign | -1.214 | Destabilizing | 0.999 | D | 0.447 | neutral | None | None | None | None | N |
| S/H | 0.6136 | likely_pathogenic | 0.6737 | pathogenic | -1.613 | Destabilizing | 0.999 | D | 0.734 | prob.delet. | None | None | None | None | N |
| S/I | 0.3022 | likely_benign | 0.3754 | ambiguous | -0.536 | Destabilizing | 0.999 | D | 0.734 | prob.delet. | None | None | None | None | N |
| S/K | 0.7934 | likely_pathogenic | 0.8401 | pathogenic | -0.446 | Destabilizing | 0.996 | D | 0.475 | neutral | None | None | None | None | N |
| S/L | 0.1477 | likely_benign | 0.1642 | benign | -0.536 | Destabilizing | 0.998 | D | 0.592 | neutral | N | 0.516082077 | None | None | N |
| S/M | 0.2906 | likely_benign | 0.3133 | benign | -0.189 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | N |
| S/N | 0.2624 | likely_benign | 0.3177 | benign | -0.363 | Destabilizing | 0.999 | D | 0.489 | neutral | None | None | None | None | N |
| S/P | 0.711 | likely_pathogenic | 0.8414 | pathogenic | -0.661 | Destabilizing | 0.999 | D | 0.72 | prob.delet. | D | 0.539466251 | None | None | N |
| S/Q | 0.6662 | likely_pathogenic | 0.7105 | pathogenic | -0.54 | Destabilizing | 1.0 | D | 0.581 | neutral | None | None | None | None | N |
| S/R | 0.6781 | likely_pathogenic | 0.7389 | pathogenic | -0.373 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| S/T | 0.0982 | likely_benign | 0.0992 | benign | -0.527 | Destabilizing | 0.994 | D | 0.431 | neutral | N | 0.489063826 | None | None | N |
| S/V | 0.2996 | likely_benign | 0.3616 | ambiguous | -0.661 | Destabilizing | 0.998 | D | 0.651 | neutral | None | None | None | None | N |
| S/W | 0.6164 | likely_pathogenic | 0.6803 | pathogenic | -1.204 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.551329536 | None | None | N |
| S/Y | 0.3879 | ambiguous | 0.4515 | ambiguous | -0.959 | Destabilizing | 0.784 | D | 0.385 | 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.