Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15548 | 46867;46868;46869 | chr2:178619675;178619674;178619673 | chr2:179484402;179484401;179484400 |
| N2AB | 13907 | 41944;41945;41946 | chr2:178619675;178619674;178619673 | chr2:179484402;179484401;179484400 |
| N2A | 12980 | 39163;39164;39165 | chr2:178619675;178619674;178619673 | chr2:179484402;179484401;179484400 |
| N2B | 6483 | 19672;19673;19674 | chr2:178619675;178619674;178619673 | chr2:179484402;179484401;179484400 |
| Novex-1 | 6608 | 20047;20048;20049 | chr2:178619675;178619674;178619673 | chr2:179484402;179484401;179484400 |
| Novex-2 | 6675 | 20248;20249;20250 | chr2:178619675;178619674;178619673 | chr2:179484402;179484401;179484400 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | None | None | 0.999 | D | 0.689 | 0.521 | 0.465806656444 | gnomAD-4.0.0 | 6.84835E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00118E-07 | 0 | 0 |
| E/Q | rs1364430603  |
None | 1.0 | N | 0.629 | 0.235 | 0.431150418975 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.57E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/Q | rs1364430603 |
None | 1.0 | N | 0.629 | 0.235 | 0.431150418975 | gnomAD-4.0.0 | 6.58458E-06 | None | None | None | None | N | None | 0 | 6.5703E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/V | rs1281939698 |
0.056 | 1.0 | N | 0.805 | 0.523 | 0.469660041277 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| E/V | rs1281939698 |
0.056 | 1.0 | N | 0.805 | 0.523 | 0.469660041277 | gnomAD-4.0.0 | 6.84835E-07 | None | None | None | None | N | None | 0 | 2.24115E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.4412 | ambiguous | 0.3893 | ambiguous | -0.905 | Destabilizing | 0.999 | D | 0.689 | prob.neutral | D | 0.538763303 | None | None | N |
| E/C | 0.9621 | likely_pathogenic | 0.9465 | pathogenic | -0.403 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| E/D | 0.2831 | likely_benign | 0.2776 | benign | -0.913 | Destabilizing | 0.999 | D | 0.574 | neutral | N | 0.509381845 | None | None | N |
| E/F | 0.8751 | likely_pathogenic | 0.8498 | pathogenic | -0.451 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| E/G | 0.6491 | likely_pathogenic | 0.573 | pathogenic | -1.22 | Destabilizing | 1.0 | D | 0.751 | deleterious | D | 0.541297615 | None | None | N |
| E/H | 0.8454 | likely_pathogenic | 0.812 | pathogenic | -0.596 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| E/I | 0.4614 | ambiguous | 0.4272 | ambiguous | -0.06 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| E/K | 0.6072 | likely_pathogenic | 0.5502 | ambiguous | -0.328 | Destabilizing | 0.999 | D | 0.632 | neutral | D | 0.532666071 | None | None | N |
| E/L | 0.6657 | likely_pathogenic | 0.6341 | pathogenic | -0.06 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| E/M | 0.6639 | likely_pathogenic | 0.6374 | pathogenic | 0.318 | Stabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| E/N | 0.571 | likely_pathogenic | 0.5395 | ambiguous | -0.787 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| E/P | 0.8741 | likely_pathogenic | 0.8332 | pathogenic | -0.321 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| E/Q | 0.4006 | ambiguous | 0.3697 | ambiguous | -0.714 | Destabilizing | 1.0 | D | 0.629 | neutral | N | 0.509704734 | None | None | N |
| E/R | 0.7523 | likely_pathogenic | 0.6963 | pathogenic | -0.065 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| E/S | 0.5118 | ambiguous | 0.4708 | ambiguous | -1.05 | Destabilizing | 0.999 | D | 0.623 | neutral | None | None | None | None | N |
| E/T | 0.4467 | ambiguous | 0.4024 | ambiguous | -0.788 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| E/V | 0.3382 | likely_benign | 0.3108 | benign | -0.321 | Destabilizing | 1.0 | D | 0.805 | deleterious | N | 0.51205044 | None | None | N |
| E/W | 0.9656 | likely_pathogenic | 0.9553 | pathogenic | -0.161 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| E/Y | 0.858 | likely_pathogenic | 0.8331 | pathogenic | -0.179 | Destabilizing | 1.0 | D | 0.807 | deleterious | 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.