Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31081 | 93466;93467;93468 | chr2:178548385;178548384;178548383 | chr2:179413112;179413111;179413110 |
| N2AB | 29440 | 88543;88544;88545 | chr2:178548385;178548384;178548383 | chr2:179413112;179413111;179413110 |
| N2A | 28513 | 85762;85763;85764 | chr2:178548385;178548384;178548383 | chr2:179413112;179413111;179413110 |
| N2B | 22016 | 66271;66272;66273 | chr2:178548385;178548384;178548383 | chr2:179413112;179413111;179413110 |
| Novex-1 | 22141 | 66646;66647;66648 | chr2:178548385;178548384;178548383 | chr2:179413112;179413111;179413110 |
| Novex-2 | 22208 | 66847;66848;66849 | chr2:178548385;178548384;178548383 | chr2:179413112;179413111;179413110 |
| 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/P | rs754037471  |
-0.583 | 0.106 | N | 0.442 | 0.102 | 0.162503812791 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| A/P | rs754037471 |
-0.583 | 0.106 | N | 0.442 | 0.102 | 0.162503812791 | gnomAD-4.0.0 | 6.84186E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15931E-05 | 0 |
| A/T | None | None | None | N | 0.082 | 0.106 | 0.0611884634855 | gnomAD-4.0.0 | 6.84186E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99446E-07 | 0 | 0 |
| A/V | rs1032232850 |
-0.308 | None | N | 0.105 | 0.087 | 0.176091768786 | gnomAD-2.1.1 | 5.24E-05 | None | None | None | None | N | None | 0 | 3.18711E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 3.31675E-04 |
| A/V | rs1032232850 |
-0.308 | None | N | 0.105 | 0.087 | 0.176091768786 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 2.62089E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs1032232850 |
-0.308 | None | N | 0.105 | 0.087 | 0.176091768786 | gnomAD-4.0.0 | 2.69029E-05 | None | None | None | None | N | None | 0 | 3.22034E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 5.68764E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3117 | likely_benign | 0.334 | benign | -0.753 | Destabilizing | 0.356 | N | 0.397 | neutral | None | None | None | None | N |
| A/D | 0.2536 | likely_benign | 0.2404 | benign | -0.596 | Destabilizing | None | N | 0.107 | neutral | N | 0.436729784 | None | None | N |
| A/E | 0.2089 | likely_benign | 0.1913 | benign | -0.681 | Destabilizing | 0.016 | N | 0.358 | neutral | None | None | None | None | N |
| A/F | 0.2279 | likely_benign | 0.2399 | benign | -0.918 | Destabilizing | 0.12 | N | 0.471 | neutral | None | None | None | None | N |
| A/G | 0.1079 | likely_benign | 0.11 | benign | -0.796 | Destabilizing | None | N | 0.115 | neutral | N | 0.520212385 | None | None | N |
| A/H | 0.3227 | likely_benign | 0.3189 | benign | -0.836 | Destabilizing | 0.628 | D | 0.441 | neutral | None | None | None | None | N |
| A/I | 0.1186 | likely_benign | 0.1233 | benign | -0.333 | Destabilizing | 0.013 | N | 0.398 | neutral | None | None | None | None | N |
| A/K | 0.3361 | likely_benign | 0.3105 | benign | -0.898 | Destabilizing | 0.072 | N | 0.387 | neutral | None | None | None | None | N |
| A/L | 0.0841 | likely_benign | 0.0809 | benign | -0.333 | Destabilizing | None | N | 0.119 | neutral | None | None | None | None | N |
| A/M | 0.1123 | likely_benign | 0.1147 | benign | -0.391 | Destabilizing | 0.12 | N | 0.417 | neutral | None | None | None | None | N |
| A/N | 0.1581 | likely_benign | 0.1642 | benign | -0.556 | Destabilizing | 0.072 | N | 0.41 | neutral | None | None | None | None | N |
| A/P | 0.1975 | likely_benign | 0.1876 | benign | -0.39 | Destabilizing | 0.106 | N | 0.442 | neutral | N | 0.477288327 | None | None | N |
| A/Q | 0.2254 | likely_benign | 0.2082 | benign | -0.757 | Destabilizing | 0.356 | N | 0.473 | neutral | None | None | None | None | N |
| A/R | 0.3379 | likely_benign | 0.3131 | benign | -0.499 | Destabilizing | 0.072 | N | 0.474 | neutral | None | None | None | None | N |
| A/S | 0.0806 | likely_benign | 0.0811 | benign | -0.854 | Destabilizing | 0.001 | N | 0.109 | neutral | N | 0.387898474 | None | None | N |
| A/T | 0.0659 | likely_benign | 0.0673 | benign | -0.843 | Destabilizing | None | N | 0.082 | neutral | N | 0.36171195 | None | None | N |
| A/V | 0.0759 | likely_benign | 0.0769 | benign | -0.39 | Destabilizing | None | N | 0.105 | neutral | N | 0.370832866 | None | None | N |
| A/W | 0.5507 | ambiguous | 0.5659 | pathogenic | -1.148 | Destabilizing | 0.864 | D | 0.475 | neutral | None | None | None | None | N |
| A/Y | 0.3493 | ambiguous | 0.3683 | ambiguous | -0.767 | Destabilizing | 0.356 | N | 0.453 | 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.