Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31790 | 95593;95594;95595 | chr2:178545868;178545867;178545866 | chr2:179410595;179410594;179410593 |
| N2AB | 30149 | 90670;90671;90672 | chr2:178545868;178545867;178545866 | chr2:179410595;179410594;179410593 |
| N2A | 29222 | 87889;87890;87891 | chr2:178545868;178545867;178545866 | chr2:179410595;179410594;179410593 |
| N2B | 22725 | 68398;68399;68400 | chr2:178545868;178545867;178545866 | chr2:179410595;179410594;179410593 |
| Novex-1 | 22850 | 68773;68774;68775 | chr2:178545868;178545867;178545866 | chr2:179410595;179410594;179410593 |
| Novex-2 | 22917 | 68974;68975;68976 | chr2:178545868;178545867;178545866 | chr2:179410595;179410594;179410593 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/S | rs1235693684  |
-0.845 | 0.781 | N | 0.697 | 0.224 | 0.27132560031 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 1.14811E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/S | rs1235693684 |
-0.845 | 0.781 | N | 0.697 | 0.224 | 0.27132560031 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs1235693684 |
-0.845 | 0.781 | N | 0.697 | 0.224 | 0.27132560031 | gnomAD-4.0.0 | 2.56222E-06 | None | None | None | None | N | None | 1.69165E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39311E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0673 | likely_benign | 0.0665 | benign | -1.11 | Destabilizing | 0.334 | N | 0.63 | neutral | N | 0.437937718 | None | None | N |
| P/C | 0.3164 | likely_benign | 0.2851 | benign | -0.848 | Destabilizing | 0.982 | D | 0.813 | deleterious | None | None | None | None | N |
| P/D | 0.5369 | ambiguous | 0.4888 | ambiguous | -0.753 | Destabilizing | 0.935 | D | 0.763 | deleterious | None | None | None | None | N |
| P/E | 0.3021 | likely_benign | 0.2837 | benign | -0.833 | Destabilizing | 0.826 | D | 0.759 | deleterious | None | None | None | None | N |
| P/F | 0.3608 | ambiguous | 0.3305 | benign | -1.12 | Destabilizing | 0.539 | D | 0.813 | deleterious | None | None | None | None | N |
| P/G | 0.3273 | likely_benign | 0.2904 | benign | -1.326 | Destabilizing | 0.826 | D | 0.763 | deleterious | None | None | None | None | N |
| P/H | 0.2363 | likely_benign | 0.2185 | benign | -0.792 | Destabilizing | 0.976 | D | 0.819 | deleterious | N | 0.462121939 | None | None | N |
| P/I | 0.1549 | likely_benign | 0.1537 | benign | -0.659 | Destabilizing | 0.539 | D | 0.751 | deleterious | None | None | None | None | N |
| P/K | 0.3575 | ambiguous | 0.3445 | ambiguous | -0.814 | Destabilizing | 0.826 | D | 0.753 | deleterious | None | None | None | None | N |
| P/L | 0.0833 | likely_benign | 0.0858 | benign | -0.659 | Destabilizing | 0.002 | N | 0.537 | neutral | N | 0.409500323 | None | None | N |
| P/M | 0.1868 | likely_benign | 0.1749 | benign | -0.495 | Destabilizing | 0.815 | D | 0.809 | deleterious | None | None | None | None | N |
| P/N | 0.3453 | ambiguous | 0.2983 | benign | -0.512 | Destabilizing | 0.935 | D | 0.815 | deleterious | None | None | None | None | N |
| P/Q | 0.1832 | likely_benign | 0.1651 | benign | -0.79 | Destabilizing | 0.935 | D | 0.79 | deleterious | None | None | None | None | N |
| P/R | 0.2572 | likely_benign | 0.2448 | benign | -0.222 | Destabilizing | 0.781 | D | 0.817 | deleterious | N | 0.473474444 | None | None | N |
| P/S | 0.1408 | likely_benign | 0.1185 | benign | -0.985 | Destabilizing | 0.781 | D | 0.697 | prob.neutral | N | 0.4846328 | None | None | N |
| P/T | 0.09 | likely_benign | 0.0848 | benign | -0.96 | Destabilizing | 0.638 | D | 0.695 | prob.neutral | N | 0.444845048 | None | None | N |
| P/V | 0.1087 | likely_benign | 0.1107 | benign | -0.773 | Destabilizing | 0.25 | N | 0.712 | prob.delet. | None | None | None | None | N |
| P/W | 0.5332 | ambiguous | 0.5178 | ambiguous | -1.166 | Destabilizing | 0.982 | D | 0.796 | deleterious | None | None | None | None | N |
| P/Y | 0.3925 | ambiguous | 0.3682 | ambiguous | -0.891 | Destabilizing | 0.826 | D | 0.814 | 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.