Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17041 | 51346;51347;51348 | chr2:178611008;178611007;178611006 | chr2:179475735;179475734;179475733 |
| N2AB | 15400 | 46423;46424;46425 | chr2:178611008;178611007;178611006 | chr2:179475735;179475734;179475733 |
| N2A | 14473 | 43642;43643;43644 | chr2:178611008;178611007;178611006 | chr2:179475735;179475734;179475733 |
| N2B | 7976 | 24151;24152;24153 | chr2:178611008;178611007;178611006 | chr2:179475735;179475734;179475733 |
| Novex-1 | 8101 | 24526;24527;24528 | chr2:178611008;178611007;178611006 | chr2:179475735;179475734;179475733 |
| Novex-2 | 8168 | 24727;24728;24729 | chr2:178611008;178611007;178611006 | chr2:179475735;179475734;179475733 |
| 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/D | rs751639212  |
-0.263 | 0.834 | N | 0.551 | 0.374 | 0.331619326243 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.3E-05 | None | 0 | 0 | 0 |
| N/D | rs751639212 |
-0.263 | 0.834 | N | 0.551 | 0.374 | 0.331619326243 | gnomAD-4.0.0 | 5.4792E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.20056E-06 | 0 | 0 |
| N/S | rs774659339 |
None | 0.716 | N | 0.499 | 0.178 | 0.240491677333 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/S | rs774659339 |
None | 0.716 | N | 0.499 | 0.178 | 0.240491677333 | gnomAD-4.0.0 | 1.11656E-05 | None | None | None | None | N | None | 1.33697E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.44193E-05 | 0 | 0 |
| N/Y | rs751639212 |
None | 0.991 | N | 0.804 | 0.605 | 0.623733534801 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94477E-04 | None | 0 | 0 | 0 | 0 | 0 |
| N/Y | rs751639212 |
None | 0.991 | N | 0.804 | 0.605 | 0.623733534801 | gnomAD-4.0.0 | 6.57947E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.94477E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.225 | likely_benign | 0.2519 | benign | -1.006 | Destabilizing | 0.769 | D | 0.684 | prob.neutral | None | None | None | None | N |
| N/C | 0.3088 | likely_benign | 0.3457 | ambiguous | -0.121 | Destabilizing | 0.998 | D | 0.766 | deleterious | None | None | None | None | N |
| N/D | 0.21 | likely_benign | 0.2365 | benign | -0.58 | Destabilizing | 0.834 | D | 0.551 | neutral | N | 0.512203247 | None | None | N |
| N/E | 0.4649 | ambiguous | 0.5019 | ambiguous | -0.478 | Destabilizing | 0.769 | D | 0.566 | neutral | None | None | None | None | N |
| N/F | 0.5299 | ambiguous | 0.5884 | pathogenic | -0.729 | Destabilizing | 0.998 | D | 0.785 | deleterious | None | None | None | None | N |
| N/G | 0.3687 | ambiguous | 0.3859 | ambiguous | -1.345 | Destabilizing | 0.87 | D | 0.531 | neutral | None | None | None | None | N |
| N/H | 0.1013 | likely_benign | 0.1057 | benign | -0.975 | Destabilizing | 0.973 | D | 0.723 | prob.delet. | N | 0.505371329 | None | None | N |
| N/I | 0.2363 | likely_benign | 0.2821 | benign | -0.137 | Destabilizing | 0.973 | D | 0.807 | deleterious | N | 0.505154715 | None | None | N |
| N/K | 0.3287 | likely_benign | 0.3569 | ambiguous | -0.242 | Destabilizing | 0.016 | N | 0.343 | neutral | N | 0.506356072 | None | None | N |
| N/L | 0.2457 | likely_benign | 0.2804 | benign | -0.137 | Destabilizing | 0.959 | D | 0.749 | deleterious | None | None | None | None | N |
| N/M | 0.3355 | likely_benign | 0.3828 | ambiguous | 0.334 | Stabilizing | 0.998 | D | 0.783 | deleterious | None | None | None | None | N |
| N/P | 0.7602 | likely_pathogenic | 0.783 | pathogenic | -0.398 | Destabilizing | 0.979 | D | 0.797 | deleterious | None | None | None | None | N |
| N/Q | 0.3536 | ambiguous | 0.3805 | ambiguous | -0.898 | Destabilizing | 0.921 | D | 0.733 | prob.delet. | None | None | None | None | N |
| N/R | 0.3432 | ambiguous | 0.3571 | ambiguous | -0.222 | Destabilizing | 0.921 | D | 0.664 | neutral | None | None | None | None | N |
| N/S | 0.0908 | likely_benign | 0.094 | benign | -0.951 | Destabilizing | 0.716 | D | 0.499 | neutral | N | 0.475921972 | None | None | N |
| N/T | 0.1259 | likely_benign | 0.1388 | benign | -0.653 | Destabilizing | 0.834 | D | 0.603 | neutral | N | 0.478510455 | None | None | N |
| N/V | 0.243 | likely_benign | 0.2888 | benign | -0.398 | Destabilizing | 0.959 | D | 0.785 | deleterious | None | None | None | None | N |
| N/W | 0.8079 | likely_pathogenic | 0.8354 | pathogenic | -0.428 | Destabilizing | 0.998 | D | 0.738 | prob.delet. | None | None | None | None | N |
| N/Y | 0.2065 | likely_benign | 0.235 | benign | -0.237 | Destabilizing | 0.991 | D | 0.804 | deleterious | N | 0.512114899 | 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.