Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6931 | 21016;21017;21018 | chr2:178725413;178725412;178725411 | chr2:179590140;179590139;179590138 |
| N2AB | 6614 | 20065;20066;20067 | chr2:178725413;178725412;178725411 | chr2:179590140;179590139;179590138 |
| N2A | 5687 | 17284;17285;17286 | chr2:178725413;178725412;178725411 | chr2:179590140;179590139;179590138 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/S | rs200866883  |
-1.128 | 0.999 | D | 0.561 | 0.625 | None | gnomAD-2.1.1 | 2.19215E-04 | None | None | None | None | N | None | 8.33E-05 | 5.75E-05 | None | 0 | 0 | None | 0 | None | 0 | 4.39986E-04 | 1.44217E-04 |
| N/S | rs200866883 |
-1.128 | 0.999 | D | 0.561 | 0.625 | None | gnomAD-3.1.2 | 2.49668E-04 | None | None | None | None | N | None | 1.20575E-04 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 4.70395E-04 | 0 | 0 |
| N/S | rs200866883 |
-1.128 | 0.999 | D | 0.561 | 0.625 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| N/S | rs200866883 |
-1.128 | 0.999 | D | 0.561 | 0.625 | None | gnomAD-4.0.0 | 3.38553E-04 | None | None | None | None | N | None | 1.2009E-04 | 5.03542E-05 | None | 0 | 0 | None | 0 | 0 | 4.34573E-04 | 0 | 3.37729E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9922 | likely_pathogenic | 0.9918 | pathogenic | -0.936 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| N/C | 0.9824 | likely_pathogenic | 0.9822 | pathogenic | -0.225 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| N/D | 0.9426 | likely_pathogenic | 0.9382 | pathogenic | -1.203 | Destabilizing | 0.999 | D | 0.593 | neutral | D | 0.535306789 | None | None | N |
| N/E | 0.9949 | likely_pathogenic | 0.9951 | pathogenic | -1.077 | Destabilizing | 0.999 | D | 0.684 | prob.neutral | None | None | None | None | N |
| N/F | 0.9985 | likely_pathogenic | 0.9985 | pathogenic | -0.606 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| N/G | 0.9643 | likely_pathogenic | 0.9627 | pathogenic | -1.295 | Destabilizing | 0.999 | D | 0.535 | neutral | None | None | None | None | N |
| N/H | 0.9551 | likely_pathogenic | 0.9585 | pathogenic | -1.003 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | D | 0.536574237 | None | None | N |
| N/I | 0.9889 | likely_pathogenic | 0.9895 | pathogenic | -0.01 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | D | 0.536827726 | None | None | N |
| N/K | 0.994 | likely_pathogenic | 0.9948 | pathogenic | -0.392 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | D | 0.536067258 | None | None | N |
| N/L | 0.9843 | likely_pathogenic | 0.9859 | pathogenic | -0.01 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | None | None | None | None | N |
| N/M | 0.9877 | likely_pathogenic | 0.9886 | pathogenic | 0.44 | Stabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| N/P | 0.9971 | likely_pathogenic | 0.9975 | pathogenic | -0.289 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| N/Q | 0.9948 | likely_pathogenic | 0.9952 | pathogenic | -1.095 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| N/R | 0.9918 | likely_pathogenic | 0.9928 | pathogenic | -0.419 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| N/S | 0.8328 | likely_pathogenic | 0.8296 | pathogenic | -1.095 | Destabilizing | 0.999 | D | 0.561 | neutral | D | 0.534292831 | None | None | N |
| N/T | 0.9411 | likely_pathogenic | 0.9463 | pathogenic | -0.782 | Destabilizing | 0.999 | D | 0.673 | neutral | N | 0.517456024 | None | None | N |
| N/V | 0.9899 | likely_pathogenic | 0.9902 | pathogenic | -0.289 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| N/W | 0.9987 | likely_pathogenic | 0.9987 | pathogenic | -0.37 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| N/Y | 0.9717 | likely_pathogenic | 0.9733 | pathogenic | -0.133 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | D | 0.536574237 | 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.