Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15846 | 47761;47762;47763 | chr2:178617815;178617814;178617813 | chr2:179482542;179482541;179482540 |
| N2AB | 14205 | 42838;42839;42840 | chr2:178617815;178617814;178617813 | chr2:179482542;179482541;179482540 |
| N2A | 13278 | 40057;40058;40059 | chr2:178617815;178617814;178617813 | chr2:179482542;179482541;179482540 |
| N2B | 6781 | 20566;20567;20568 | chr2:178617815;178617814;178617813 | chr2:179482542;179482541;179482540 |
| Novex-1 | 6906 | 20941;20942;20943 | chr2:178617815;178617814;178617813 | chr2:179482542;179482541;179482540 |
| Novex-2 | 6973 | 21142;21143;21144 | chr2:178617815;178617814;178617813 | chr2:179482542;179482541;179482540 |
| 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/T | rs770548430  |
None | 0.191 | N | 0.437 | 0.043 | 0.152612264143 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/T | rs770548430 |
None | 0.191 | N | 0.437 | 0.043 | 0.152612264143 | gnomAD-4.0.0 | 2.03047E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.41022E-06 | 0 | 0 |
| A/V | rs1183139911 |
None | 0.191 | N | 0.349 | 0.154 | 0.223146558224 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07297E-04 | 0 |
| A/V | rs1183139911 |
None | 0.191 | N | 0.349 | 0.154 | 0.223146558224 | gnomAD-4.0.0 | 2.56663E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.68197E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4524 | ambiguous | 0.4641 | ambiguous | -0.742 | Destabilizing | 0.944 | D | 0.524 | neutral | None | None | None | None | I |
| A/D | 0.2263 | likely_benign | 0.2328 | benign | -0.472 | Destabilizing | 0.687 | D | 0.509 | neutral | None | None | None | None | I |
| A/E | 0.178 | likely_benign | 0.1819 | benign | -0.615 | Destabilizing | 0.191 | N | 0.523 | neutral | N | 0.401758235 | None | None | I |
| A/F | 0.2503 | likely_benign | 0.2467 | benign | -1.049 | Destabilizing | 0.687 | D | 0.699 | prob.delet. | None | None | None | None | I |
| A/G | 0.144 | likely_benign | 0.1458 | benign | -0.595 | Destabilizing | 0.191 | N | 0.385 | neutral | N | 0.473043797 | None | None | I |
| A/H | 0.3457 | ambiguous | 0.3456 | ambiguous | -0.676 | Destabilizing | 0.01 | N | 0.531 | neutral | None | None | None | None | I |
| A/I | 0.1709 | likely_benign | 0.1585 | benign | -0.453 | Destabilizing | 0.524 | D | 0.489 | neutral | None | None | None | None | I |
| A/K | 0.2601 | likely_benign | 0.2714 | benign | -0.709 | Destabilizing | 0.239 | N | 0.532 | neutral | None | None | None | None | I |
| A/L | 0.1127 | likely_benign | 0.1072 | benign | -0.453 | Destabilizing | 0.002 | N | 0.328 | neutral | None | None | None | None | I |
| A/M | 0.1681 | likely_benign | 0.1548 | benign | -0.365 | Destabilizing | 0.892 | D | 0.57 | neutral | None | None | None | None | I |
| A/N | 0.1898 | likely_benign | 0.1787 | benign | -0.33 | Destabilizing | 0.524 | D | 0.564 | neutral | None | None | None | None | I |
| A/P | 0.1066 | likely_benign | 0.1052 | benign | -0.435 | Destabilizing | 0.003 | N | 0.341 | neutral | N | 0.443814135 | None | None | I |
| A/Q | 0.2097 | likely_benign | 0.2094 | benign | -0.628 | Destabilizing | 0.687 | D | 0.577 | neutral | None | None | None | None | I |
| A/R | 0.243 | likely_benign | 0.2694 | benign | -0.277 | Destabilizing | 0.687 | D | 0.557 | neutral | None | None | None | None | I |
| A/S | 0.0887 | likely_benign | 0.089 | benign | -0.587 | Destabilizing | 0.003 | N | 0.24 | neutral | N | 0.465136377 | None | None | I |
| A/T | 0.0869 | likely_benign | 0.0813 | benign | -0.651 | Destabilizing | 0.191 | N | 0.437 | neutral | N | 0.471159604 | None | None | I |
| A/V | 0.0991 | likely_benign | 0.0948 | benign | -0.435 | Destabilizing | 0.191 | N | 0.349 | neutral | N | 0.474354777 | None | None | I |
| A/W | 0.6184 | likely_pathogenic | 0.6232 | pathogenic | -1.183 | Destabilizing | 0.981 | D | 0.741 | deleterious | None | None | None | None | I |
| A/Y | 0.3638 | ambiguous | 0.3659 | ambiguous | -0.83 | Destabilizing | 0.687 | D | 0.707 | prob.delet. | 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.