Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31124 | 93595;93596;93597 | chr2:178548256;178548255;178548254 | chr2:179412983;179412982;179412981 |
| N2AB | 29483 | 88672;88673;88674 | chr2:178548256;178548255;178548254 | chr2:179412983;179412982;179412981 |
| N2A | 28556 | 85891;85892;85893 | chr2:178548256;178548255;178548254 | chr2:179412983;179412982;179412981 |
| N2B | 22059 | 66400;66401;66402 | chr2:178548256;178548255;178548254 | chr2:179412983;179412982;179412981 |
| Novex-1 | 22184 | 66775;66776;66777 | chr2:178548256;178548255;178548254 | chr2:179412983;179412982;179412981 |
| Novex-2 | 22251 | 66976;66977;66978 | chr2:178548256;178548255;178548254 | chr2:179412983;179412982;179412981 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | rs775147653  |
-0.114 | 1.0 | N | 0.683 | 0.476 | 0.411799315854 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| D/A | rs775147653 |
-0.114 | 1.0 | N | 0.683 | 0.476 | 0.411799315854 | 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 |
| D/A | rs775147653 |
-0.114 | 1.0 | N | 0.683 | 0.476 | 0.411799315854 | gnomAD-4.0.0 | 1.23937E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69519E-06 | 0 | 0 |
| D/V | rs775147653 |
0.266 | 1.0 | N | 0.707 | 0.559 | 0.414281671643 | gnomAD-2.1.1 | 1.24786E-04 | None | None | None | None | N | None | 0 | 8.9829E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/V | rs775147653 |
0.266 | 1.0 | N | 0.707 | 0.559 | 0.414281671643 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/V | rs775147653 |
0.266 | 1.0 | N | 0.707 | 0.559 | 0.414281671643 | gnomAD-4.0.0 | 1.92102E-05 | None | None | None | None | N | None | 0 | 5.1677E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.6389 | likely_pathogenic | 0.5386 | ambiguous | -0.289 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | N | 0.466088866 | None | None | N |
| D/C | 0.9547 | likely_pathogenic | 0.9332 | pathogenic | 0.115 | Stabilizing | 1.0 | D | 0.611 | neutral | None | None | None | None | N |
| D/E | 0.5638 | ambiguous | 0.495 | ambiguous | -0.311 | Destabilizing | 1.0 | D | 0.385 | neutral | N | 0.496564734 | None | None | N |
| D/F | 0.9246 | likely_pathogenic | 0.8914 | pathogenic | -0.294 | Destabilizing | 1.0 | D | 0.627 | neutral | None | None | None | None | N |
| D/G | 0.5805 | likely_pathogenic | 0.4944 | ambiguous | -0.48 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | N | 0.481257059 | None | None | N |
| D/H | 0.819 | likely_pathogenic | 0.7243 | pathogenic | -0.21 | Destabilizing | 1.0 | D | 0.588 | neutral | N | 0.484437065 | None | None | N |
| D/I | 0.9214 | likely_pathogenic | 0.8742 | pathogenic | 0.165 | Stabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| D/K | 0.9209 | likely_pathogenic | 0.8611 | pathogenic | 0.367 | Stabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| D/L | 0.8858 | likely_pathogenic | 0.8316 | pathogenic | 0.165 | Stabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| D/M | 0.9538 | likely_pathogenic | 0.9317 | pathogenic | 0.354 | Stabilizing | 1.0 | D | 0.613 | neutral | None | None | None | None | N |
| D/N | 0.3433 | ambiguous | 0.3044 | benign | 0.079 | Stabilizing | 1.0 | D | 0.619 | neutral | N | 0.505069574 | None | None | N |
| D/P | 0.994 | likely_pathogenic | 0.9883 | pathogenic | 0.036 | Stabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| D/Q | 0.855 | likely_pathogenic | 0.7802 | pathogenic | 0.106 | Stabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| D/R | 0.9053 | likely_pathogenic | 0.8431 | pathogenic | 0.457 | Stabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | N |
| D/S | 0.4226 | ambiguous | 0.3528 | ambiguous | -0.016 | Destabilizing | 1.0 | D | 0.648 | neutral | None | None | None | None | N |
| D/T | 0.7616 | likely_pathogenic | 0.6933 | pathogenic | 0.134 | Stabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| D/V | 0.813 | likely_pathogenic | 0.7272 | pathogenic | 0.036 | Stabilizing | 1.0 | D | 0.707 | prob.neutral | N | 0.49123424 | None | None | N |
| D/W | 0.9876 | likely_pathogenic | 0.979 | pathogenic | -0.18 | Destabilizing | 1.0 | D | 0.62 | neutral | None | None | None | None | N |
| D/Y | 0.733 | likely_pathogenic | 0.6192 | pathogenic | -0.06 | Destabilizing | 1.0 | D | 0.607 | neutral | N | 0.508630933 | 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.