Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8051 | 24376;24377;24378 | chr2:178719239;178719238;178719237 | chr2:179583966;179583965;179583964 |
| N2AB | 7734 | 23425;23426;23427 | chr2:178719239;178719238;178719237 | chr2:179583966;179583965;179583964 |
| N2A | 6807 | 20644;20645;20646 | chr2:178719239;178719238;178719237 | chr2:179583966;179583965;179583964 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs368438797  |
-0.349 | 0.928 | D | 0.643 | 0.687 | 0.562131562789 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| D/E | rs368438797 |
-0.349 | 0.928 | D | 0.643 | 0.687 | 0.562131562789 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| D/E | rs368438797 |
-0.349 | 0.928 | D | 0.643 | 0.687 | 0.562131562789 | gnomAD-4.0.0 | 4.95772E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.78106E-06 | 0 | 0 |
| D/N | rs368226720 |
-0.541 | 0.343 | D | 0.405 | 0.561 | 0.467416895013 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.35E-05 | 0 |
| D/N | rs368226720 |
-0.541 | 0.343 | D | 0.405 | 0.561 | 0.467416895013 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 2.07297E-04 | 0 |
| D/N | rs368226720 |
-0.541 | 0.343 | D | 0.405 | 0.561 | 0.467416895013 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| D/N | rs368226720 |
-0.541 | 0.343 | D | 0.405 | 0.561 | 0.467416895013 | gnomAD-4.0.0 | 9.2954E-06 | None | None | None | None | N | None | 1.33348E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.01717E-05 | 2.19606E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.5116 | ambiguous | 0.4999 | ambiguous | 0.067 | Stabilizing | 0.978 | D | 0.853 | deleterious | D | 0.662677827 | None | None | N |
| D/C | 0.8227 | likely_pathogenic | 0.7918 | pathogenic | 0.055 | Stabilizing | 0.999 | D | 0.869 | deleterious | None | None | None | None | N |
| D/E | 0.4573 | ambiguous | 0.4315 | ambiguous | -0.723 | Destabilizing | 0.928 | D | 0.643 | neutral | D | 0.594371417 | None | None | N |
| D/F | 0.8455 | likely_pathogenic | 0.8242 | pathogenic | 0.727 | Stabilizing | 0.999 | D | 0.905 | deleterious | None | None | None | None | N |
| D/G | 0.5252 | ambiguous | 0.5056 | ambiguous | -0.385 | Destabilizing | 0.865 | D | 0.737 | prob.delet. | D | 0.662879631 | None | None | N |
| D/H | 0.4515 | ambiguous | 0.4567 | ambiguous | 0.307 | Stabilizing | 0.998 | D | 0.841 | deleterious | D | 0.5864671 | None | None | N |
| D/I | 0.8192 | likely_pathogenic | 0.8073 | pathogenic | 1.282 | Stabilizing | 0.992 | D | 0.89 | deleterious | None | None | None | None | N |
| D/K | 0.7876 | likely_pathogenic | 0.796 | pathogenic | -0.103 | Destabilizing | 0.968 | D | 0.831 | deleterious | None | None | None | None | N |
| D/L | 0.8124 | likely_pathogenic | 0.7998 | pathogenic | 1.282 | Stabilizing | 0.983 | D | 0.893 | deleterious | None | None | None | None | N |
| D/M | 0.8561 | likely_pathogenic | 0.8544 | pathogenic | 1.691 | Stabilizing | 0.999 | D | 0.88 | deleterious | None | None | None | None | N |
| D/N | 0.1775 | likely_benign | 0.172 | benign | -0.864 | Destabilizing | 0.343 | N | 0.405 | neutral | D | 0.589324515 | None | None | N |
| D/P | 0.9767 | likely_pathogenic | 0.9772 | pathogenic | 0.906 | Stabilizing | 0.992 | D | 0.84 | deleterious | None | None | None | None | N |
| D/Q | 0.643 | likely_pathogenic | 0.6475 | pathogenic | -0.551 | Destabilizing | 0.983 | D | 0.806 | deleterious | None | None | None | None | N |
| D/R | 0.8235 | likely_pathogenic | 0.8355 | pathogenic | -0.035 | Destabilizing | 0.983 | D | 0.883 | deleterious | None | None | None | None | N |
| D/S | 0.2802 | likely_benign | 0.274 | benign | -1.123 | Destabilizing | 0.895 | D | 0.654 | neutral | None | None | None | None | N |
| D/T | 0.6708 | likely_pathogenic | 0.6647 | pathogenic | -0.715 | Destabilizing | 0.983 | D | 0.832 | deleterious | None | None | None | None | N |
| D/V | 0.6418 | likely_pathogenic | 0.619 | pathogenic | 0.906 | Stabilizing | 0.989 | D | 0.895 | deleterious | D | 0.663283239 | None | None | N |
| D/W | 0.9721 | likely_pathogenic | 0.9673 | pathogenic | 0.816 | Stabilizing | 0.999 | D | 0.843 | deleterious | None | None | None | None | N |
| D/Y | 0.437 | ambiguous | 0.408 | ambiguous | 0.98 | Stabilizing | 1.0 | D | 0.905 | deleterious | D | 0.630810549 | 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.