Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24442 | 73549;73550;73551 | chr2:178572808;178572807;178572806 | chr2:179437535;179437534;179437533 |
| N2AB | 22801 | 68626;68627;68628 | chr2:178572808;178572807;178572806 | chr2:179437535;179437534;179437533 |
| N2A | 21874 | 65845;65846;65847 | chr2:178572808;178572807;178572806 | chr2:179437535;179437534;179437533 |
| N2B | 15377 | 46354;46355;46356 | chr2:178572808;178572807;178572806 | chr2:179437535;179437534;179437533 |
| Novex-1 | 15502 | 46729;46730;46731 | chr2:178572808;178572807;178572806 | chr2:179437535;179437534;179437533 |
| Novex-2 | 15569 | 46930;46931;46932 | chr2:178572808;178572807;178572806 | chr2:179437535;179437534;179437533 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/D | rs878960037  |
None | 0.998 | N | 0.747 | 0.468 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/D | rs878960037 |
None | 0.998 | N | 0.747 | 0.468 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/D | rs878960037 |
None | 0.998 | N | 0.747 | 0.468 | None | gnomAD-4.0.0 | 6.57635E-06 | None | None | None | None | I | None | 2.41418E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/G | None | None | 0.979 | N | 0.563 | 0.338 | 0.306053231325 | gnomAD-4.0.0 | 2.73743E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59847E-06 | 0 | 0 |
| A/T | rs764005465 |
-0.897 | 0.958 | N | 0.667 | 0.307 | 0.283371740733 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| A/T | rs764005465 |
-0.897 | 0.958 | N | 0.667 | 0.307 | 0.283371740733 | gnomAD-4.0.0 | 1.59206E-06 | None | None | None | None | I | None | 0 | 2.28707E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | None | None | 0.142 | N | 0.385 | 0.31 | 0.335414705075 | gnomAD-4.0.0 | 3.42179E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49809E-06 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8406 | likely_pathogenic | 0.8366 | pathogenic | -0.76 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | I |
| A/D | 0.9486 | likely_pathogenic | 0.9445 | pathogenic | -1.19 | Destabilizing | 0.998 | D | 0.747 | deleterious | N | 0.483470834 | None | None | I |
| A/E | 0.9284 | likely_pathogenic | 0.9289 | pathogenic | -1.3 | Destabilizing | 0.995 | D | 0.733 | prob.delet. | None | None | None | None | I |
| A/F | 0.9299 | likely_pathogenic | 0.9337 | pathogenic | -1.15 | Destabilizing | 0.991 | D | 0.777 | deleterious | None | None | None | None | I |
| A/G | 0.4493 | ambiguous | 0.4428 | ambiguous | -0.956 | Destabilizing | 0.979 | D | 0.563 | neutral | N | 0.510057786 | None | None | I |
| A/H | 0.9073 | likely_pathogenic | 0.9067 | pathogenic | -1.087 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | I |
| A/I | 0.9403 | likely_pathogenic | 0.9382 | pathogenic | -0.542 | Destabilizing | 0.938 | D | 0.658 | neutral | None | None | None | None | I |
| A/K | 0.9734 | likely_pathogenic | 0.9738 | pathogenic | -1.222 | Destabilizing | 0.995 | D | 0.729 | prob.delet. | None | None | None | None | I |
| A/L | 0.8725 | likely_pathogenic | 0.8809 | pathogenic | -0.542 | Destabilizing | 0.938 | D | 0.513 | neutral | None | None | None | None | I |
| A/M | 0.8932 | likely_pathogenic | 0.8905 | pathogenic | -0.352 | Destabilizing | 0.999 | D | 0.759 | deleterious | None | None | None | None | I |
| A/N | 0.7758 | likely_pathogenic | 0.7738 | pathogenic | -0.79 | Destabilizing | 0.998 | D | 0.772 | deleterious | None | None | None | None | I |
| A/P | 0.9524 | likely_pathogenic | 0.9377 | pathogenic | -0.589 | Destabilizing | 0.998 | D | 0.733 | prob.delet. | N | 0.508790338 | None | None | I |
| A/Q | 0.8594 | likely_pathogenic | 0.8639 | pathogenic | -1.072 | Destabilizing | 0.998 | D | 0.763 | deleterious | None | None | None | None | I |
| A/R | 0.9272 | likely_pathogenic | 0.9342 | pathogenic | -0.697 | Destabilizing | 0.995 | D | 0.759 | deleterious | None | None | None | None | I |
| A/S | 0.1479 | likely_benign | 0.1359 | benign | -1.01 | Destabilizing | 0.979 | D | 0.553 | neutral | N | 0.509677599 | None | None | I |
| A/T | 0.6973 | likely_pathogenic | 0.6671 | pathogenic | -1.048 | Destabilizing | 0.958 | D | 0.667 | neutral | N | 0.466656799 | None | None | I |
| A/V | 0.7698 | likely_pathogenic | 0.7611 | pathogenic | -0.589 | Destabilizing | 0.142 | N | 0.385 | neutral | N | 0.460158658 | None | None | I |
| A/W | 0.9887 | likely_pathogenic | 0.9879 | pathogenic | -1.375 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| A/Y | 0.9275 | likely_pathogenic | 0.9354 | pathogenic | -1.042 | Destabilizing | 0.995 | D | 0.789 | deleterious | None | None | None | None | I |
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.