Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22746 | 68461;68462;68463 | chr2:178578704;178578703;178578702 | chr2:179443431;179443430;179443429 |
| N2AB | 21105 | 63538;63539;63540 | chr2:178578704;178578703;178578702 | chr2:179443431;179443430;179443429 |
| N2A | 20178 | 60757;60758;60759 | chr2:178578704;178578703;178578702 | chr2:179443431;179443430;179443429 |
| N2B | 13681 | 41266;41267;41268 | chr2:178578704;178578703;178578702 | chr2:179443431;179443430;179443429 |
| Novex-1 | 13806 | 41641;41642;41643 | chr2:178578704;178578703;178578702 | chr2:179443431;179443430;179443429 |
| Novex-2 | 13873 | 41842;41843;41844 | chr2:178578704;178578703;178578702 | chr2:179443431;179443430;179443429 |
| 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 | rs1443692023  |
None | 0.999 | N | 0.797 | 0.365 | 0.361160317528 | gnomAD-4.0.0 | 6.8577E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.66069E-05 |
| A/S | rs1443692023 |
-1.898 | 0.957 | N | 0.355 | 0.156 | 0.292787519742 | gnomAD-2.1.1 | 4.08E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.99E-06 | 0 |
| A/S | rs1443692023 |
-1.898 | 0.957 | N | 0.355 | 0.156 | 0.292787519742 | gnomAD-4.0.0 | 6.8577E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00278E-07 | 0 | 0 |
| A/T | None | None | 0.992 | N | 0.647 | 0.282 | 0.390531646278 | gnomAD-4.0.0 | 4.11462E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.40167E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4464 | ambiguous | 0.4709 | ambiguous | -1.133 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| A/D | 0.7093 | likely_pathogenic | 0.7933 | pathogenic | -2.202 | Highly Destabilizing | 0.999 | D | 0.79 | deleterious | N | 0.503509733 | None | None | N |
| A/E | 0.4616 | ambiguous | 0.5433 | ambiguous | -2.237 | Highly Destabilizing | 0.999 | D | 0.767 | deleterious | None | None | None | None | N |
| A/F | 0.5451 | ambiguous | 0.5385 | ambiguous | -1.242 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| A/G | 0.2161 | likely_benign | 0.2454 | benign | -1.354 | Destabilizing | 0.996 | D | 0.606 | neutral | N | 0.492242333 | None | None | N |
| A/H | 0.6867 | likely_pathogenic | 0.7021 | pathogenic | -1.459 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| A/I | 0.3416 | ambiguous | 0.3533 | ambiguous | -0.609 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| A/K | 0.7202 | likely_pathogenic | 0.7713 | pathogenic | -1.398 | Destabilizing | 0.999 | D | 0.767 | deleterious | None | None | None | None | N |
| A/L | 0.3852 | ambiguous | 0.3999 | ambiguous | -0.609 | Destabilizing | 0.998 | D | 0.718 | prob.delet. | None | None | None | None | N |
| A/M | 0.3419 | ambiguous | 0.346 | ambiguous | -0.473 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| A/N | 0.4887 | ambiguous | 0.5306 | ambiguous | -1.22 | Destabilizing | 0.999 | D | 0.799 | deleterious | None | None | None | None | N |
| A/P | 0.1809 | likely_benign | 0.2166 | benign | -0.741 | Destabilizing | 0.999 | D | 0.797 | deleterious | N | 0.395059307 | None | None | N |
| A/Q | 0.4712 | ambiguous | 0.4917 | ambiguous | -1.459 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| A/R | 0.6439 | likely_pathogenic | 0.6981 | pathogenic | -0.96 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| A/S | 0.1033 | likely_benign | 0.1102 | benign | -1.446 | Destabilizing | 0.957 | D | 0.355 | neutral | N | 0.488990975 | None | None | N |
| A/T | 0.1434 | likely_benign | 0.1627 | benign | -1.412 | Destabilizing | 0.992 | D | 0.647 | neutral | N | 0.516697651 | None | None | N |
| A/V | 0.1863 | likely_benign | 0.2008 | benign | -0.741 | Destabilizing | 0.998 | D | 0.705 | prob.neutral | N | 0.462825881 | None | None | N |
| A/W | 0.9128 | likely_pathogenic | 0.9206 | pathogenic | -1.582 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| A/Y | 0.6834 | likely_pathogenic | 0.69 | pathogenic | -1.218 | Destabilizing | 1.0 | D | 0.817 | 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.