Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22693 | 68302;68303;68304 | chr2:178578953;178578952;178578951 | chr2:179443680;179443679;179443678 |
| N2AB | 21052 | 63379;63380;63381 | chr2:178578953;178578952;178578951 | chr2:179443680;179443679;179443678 |
| N2A | 20125 | 60598;60599;60600 | chr2:178578953;178578952;178578951 | chr2:179443680;179443679;179443678 |
| N2B | 13628 | 41107;41108;41109 | chr2:178578953;178578952;178578951 | chr2:179443680;179443679;179443678 |
| Novex-1 | 13753 | 41482;41483;41484 | chr2:178578953;178578952;178578951 | chr2:179443680;179443679;179443678 |
| Novex-2 | 13820 | 41683;41684;41685 | chr2:178578953;178578952;178578951 | chr2:179443680;179443679;179443678 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs1261128653  |
None | 0.999 | N | 0.583 | 0.439 | 0.420080204436 | gnomAD-4.0.0 | 1.59234E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78025E-05 | None | 0 | 0 | 0 | 0 | 0 |
| T/K | None | None | 1.0 | N | 0.811 | 0.383 | 0.513901218509 | gnomAD-4.0.0 | 6.84409E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99672E-07 | 0 | 0 |
| T/M | rs758700425 |
0.127 | 1.0 | D | 0.723 | 0.38 | 0.601068843871 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 7.82E-06 | 1.4041E-04 |
| T/M | rs758700425 |
0.127 | 1.0 | D | 0.723 | 0.38 | 0.601068843871 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/M | rs758700425 |
0.127 | 1.0 | D | 0.723 | 0.38 | 0.601068843871 | gnomAD-4.0.0 | 7.43924E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.23514E-05 | None | 0 | 0 | 7.63047E-06 | 2.19611E-05 | 0 |
| T/S | rs1261128653 |
-0.588 | 0.999 | N | 0.573 | 0.307 | 0.376039117802 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65673E-04 |
| T/S | rs1261128653 |
-0.588 | 0.999 | N | 0.573 | 0.307 | 0.376039117802 | gnomAD-4.0.0 | 1.59234E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02608E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1343 | likely_benign | 0.1334 | benign | -0.51 | Destabilizing | 0.999 | D | 0.583 | neutral | N | 0.505032289 | None | None | N |
| T/C | 0.5117 | ambiguous | 0.5137 | ambiguous | -0.316 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| T/D | 0.8054 | likely_pathogenic | 0.7982 | pathogenic | -0.143 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| T/E | 0.7003 | likely_pathogenic | 0.6851 | pathogenic | -0.196 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| T/F | 0.5246 | ambiguous | 0.487 | ambiguous | -0.778 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| T/G | 0.4746 | ambiguous | 0.4894 | ambiguous | -0.7 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| T/H | 0.5374 | ambiguous | 0.522 | ambiguous | -0.998 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| T/I | 0.2271 | likely_benign | 0.2218 | benign | -0.115 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| T/K | 0.5908 | likely_pathogenic | 0.5686 | pathogenic | -0.621 | Destabilizing | 1.0 | D | 0.811 | deleterious | N | 0.48375294 | None | None | N |
| T/L | 0.1271 | likely_benign | 0.127 | benign | -0.115 | Destabilizing | 0.999 | D | 0.699 | prob.neutral | None | None | None | None | N |
| T/M | 0.1153 | likely_benign | 0.11 | benign | 0.152 | Stabilizing | 1.0 | D | 0.723 | prob.delet. | D | 0.525735635 | None | None | N |
| T/N | 0.2439 | likely_benign | 0.2488 | benign | -0.403 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| T/P | 0.1267 | likely_benign | 0.1167 | benign | -0.216 | Destabilizing | 1.0 | D | 0.801 | deleterious | N | 0.48292622 | None | None | N |
| T/Q | 0.4745 | ambiguous | 0.4618 | ambiguous | -0.654 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| T/R | 0.5096 | ambiguous | 0.4775 | ambiguous | -0.293 | Destabilizing | 1.0 | D | 0.799 | deleterious | N | 0.506571084 | None | None | N |
| T/S | 0.2222 | likely_benign | 0.2238 | benign | -0.626 | Destabilizing | 0.999 | D | 0.573 | neutral | N | 0.492409708 | None | None | N |
| T/V | 0.1833 | likely_benign | 0.1791 | benign | -0.216 | Destabilizing | 0.999 | D | 0.662 | neutral | None | None | None | None | N |
| T/W | 0.8424 | likely_pathogenic | 0.8332 | pathogenic | -0.738 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| T/Y | 0.5737 | likely_pathogenic | 0.5346 | ambiguous | -0.5 | Destabilizing | 1.0 | D | 0.781 | 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.