Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9752 | 29479;29480;29481 | chr2:178706620;178706619;178706618 | chr2:179571347;179571346;179571345 |
| N2AB | 9435 | 28528;28529;28530 | chr2:178706620;178706619;178706618 | chr2:179571347;179571346;179571345 |
| N2A | 8508 | 25747;25748;25749 | chr2:178706620;178706619;178706618 | chr2:179571347;179571346;179571345 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | None | None | 0.835 | None | 0.383 | 0.146 | 0.185906805712 | gnomAD-4.0.0 | 6.84157E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99418E-07 | 0 | 0 |
| D/N | rs1420103092  |
0.183 | 0.996 | None | 0.483 | 0.317 | None | gnomAD-2.1.1 | 6.37E-05 | None | None | None | None | I | None | 1.14758E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| D/N | rs1420103092 |
0.183 | 0.996 | None | 0.483 | 0.317 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | I | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| D/N | rs1420103092 |
0.183 | 0.996 | None | 0.483 | 0.317 | None | gnomAD-4.0.0 | 1.61111E-05 | None | None | None | None | I | None | 4.00449E-05 | 1.66706E-05 | None | 0 | 4.45593E-05 | None | 0 | 0 | 1.52562E-05 | 2.19568E-05 | 0 |
| D/Y | None | None | 0.999 | None | 0.648 | 0.384 | 0.459906663326 | gnomAD-4.0.0 | 6.84159E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15934E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.2984 | likely_benign | 0.217 | benign | -0.572 | Destabilizing | 0.248 | N | 0.321 | neutral | None | None | None | None | I |
| D/C | 0.8349 | likely_pathogenic | 0.7361 | pathogenic | -0.297 | Destabilizing | 1.0 | D | 0.652 | neutral | None | None | None | None | I |
| D/E | 0.1968 | likely_benign | 0.1901 | benign | -0.682 | Destabilizing | 0.835 | D | 0.383 | neutral | None | None | None | None | I |
| D/F | 0.7646 | likely_pathogenic | 0.6263 | pathogenic | -0.234 | Destabilizing | 0.999 | D | 0.645 | neutral | None | None | None | None | I |
| D/G | 0.2956 | likely_benign | 0.1808 | benign | -0.891 | Destabilizing | 0.961 | D | 0.431 | neutral | None | None | None | None | I |
| D/H | 0.5301 | ambiguous | 0.4014 | ambiguous | -0.494 | Destabilizing | 0.998 | D | 0.556 | neutral | None | None | None | None | I |
| D/I | 0.592 | likely_pathogenic | 0.4562 | ambiguous | 0.257 | Stabilizing | 0.996 | D | 0.649 | neutral | None | None | None | None | I |
| D/K | 0.5283 | ambiguous | 0.4448 | ambiguous | -0.444 | Destabilizing | 0.942 | D | 0.452 | neutral | None | None | None | None | I |
| D/L | 0.5604 | ambiguous | 0.4463 | ambiguous | 0.257 | Stabilizing | 0.97 | D | 0.583 | neutral | None | None | None | None | I |
| D/M | 0.7603 | likely_pathogenic | 0.6749 | pathogenic | 0.621 | Stabilizing | 1.0 | D | 0.646 | neutral | None | None | None | None | I |
| D/N | 0.1292 | likely_benign | 0.109 | benign | -0.831 | Destabilizing | 0.996 | D | 0.483 | neutral | None | None | None | None | I |
| D/P | 0.7938 | likely_pathogenic | 0.6879 | pathogenic | 0.005 | Stabilizing | 0.996 | D | 0.521 | neutral | None | None | None | None | I |
| D/Q | 0.4769 | ambiguous | 0.3893 | ambiguous | -0.719 | Destabilizing | 0.559 | D | 0.154 | neutral | None | None | None | None | I |
| D/R | 0.6036 | likely_pathogenic | 0.4724 | ambiguous | -0.235 | Destabilizing | 0.991 | D | 0.581 | neutral | None | None | None | None | I |
| D/S | 0.1882 | likely_benign | 0.1413 | benign | -1.038 | Destabilizing | 0.942 | D | 0.364 | neutral | None | None | None | None | I |
| D/T | 0.3725 | ambiguous | 0.2876 | benign | -0.786 | Destabilizing | 0.97 | D | 0.509 | neutral | None | None | None | None | I |
| D/V | 0.4081 | ambiguous | 0.2935 | benign | 0.005 | Stabilizing | 0.961 | D | 0.591 | neutral | None | None | None | None | I |
| D/W | 0.9393 | likely_pathogenic | 0.8807 | pathogenic | -0.06 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | I |
| D/Y | 0.4192 | ambiguous | 0.2891 | benign | -0.015 | Destabilizing | 0.999 | D | 0.648 | neutral | 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.