Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30815 | 92668;92669;92670 | chr2:178549183;178549182;178549181 | chr2:179413910;179413909;179413908 |
| N2AB | 29174 | 87745;87746;87747 | chr2:178549183;178549182;178549181 | chr2:179413910;179413909;179413908 |
| N2A | 28247 | 84964;84965;84966 | chr2:178549183;178549182;178549181 | chr2:179413910;179413909;179413908 |
| N2B | 21750 | 65473;65474;65475 | chr2:178549183;178549182;178549181 | chr2:179413910;179413909;179413908 |
| Novex-1 | 21875 | 65848;65849;65850 | chr2:178549183;178549182;178549181 | chr2:179413910;179413909;179413908 |
| Novex-2 | 21942 | 66049;66050;66051 | chr2:178549183;178549182;178549181 | chr2:179413910;179413909;179413908 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/R | rs1485333840  |
None | 0.895 | N | 0.769 | 0.35 | 0.690842604609 | 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 |
| C/R | rs1485333840 |
None | 0.895 | N | 0.769 | 0.35 | 0.690842604609 | gnomAD-4.0.0 | 6.57402E-06 | None | None | None | None | N | None | 2.41301E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/Y | rs1185347998 |
-1.868 | 0.679 | N | 0.666 | 0.277 | 0.534620942121 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/Y | rs1185347998 |
-1.868 | 0.679 | N | 0.666 | 0.277 | 0.534620942121 | gnomAD-4.0.0 | 2.73687E-06 | None | None | None | None | N | None | 2.98775E-05 | 4.47347E-05 | None | 0 | 0 | None | 0 | 0 | 8.99439E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.7222 | likely_pathogenic | 0.7044 | pathogenic | -1.246 | Destabilizing | 0.397 | N | 0.572 | neutral | None | None | None | None | N |
| C/D | 0.9981 | likely_pathogenic | 0.9976 | pathogenic | -1.675 | Destabilizing | 0.972 | D | 0.782 | deleterious | None | None | None | None | N |
| C/E | 0.9988 | likely_pathogenic | 0.9985 | pathogenic | -1.485 | Destabilizing | 0.972 | D | 0.763 | deleterious | None | None | None | None | N |
| C/F | 0.9184 | likely_pathogenic | 0.8909 | pathogenic | -1.125 | Destabilizing | 0.009 | N | 0.611 | neutral | N | 0.508306589 | None | None | N |
| C/G | 0.7207 | likely_pathogenic | 0.6829 | pathogenic | -1.511 | Destabilizing | 0.895 | D | 0.753 | deleterious | N | 0.47919719 | None | None | N |
| C/H | 0.9951 | likely_pathogenic | 0.993 | pathogenic | -2.012 | Highly Destabilizing | 0.992 | D | 0.758 | deleterious | None | None | None | None | N |
| C/I | 0.8879 | likely_pathogenic | 0.8746 | pathogenic | -0.566 | Destabilizing | 0.737 | D | 0.691 | prob.delet. | None | None | None | None | N |
| C/K | 0.9991 | likely_pathogenic | 0.9988 | pathogenic | -0.806 | Destabilizing | 0.919 | D | 0.782 | deleterious | None | None | None | None | N |
| C/L | 0.8288 | likely_pathogenic | 0.8161 | pathogenic | -0.566 | Destabilizing | 0.444 | N | 0.621 | neutral | None | None | None | None | N |
| C/M | 0.9196 | likely_pathogenic | 0.9122 | pathogenic | -0.523 | Destabilizing | 0.977 | D | 0.645 | neutral | None | None | None | None | N |
| C/N | 0.9827 | likely_pathogenic | 0.9784 | pathogenic | -1.285 | Destabilizing | 0.972 | D | 0.766 | deleterious | None | None | None | None | N |
| C/P | 0.9694 | likely_pathogenic | 0.959 | pathogenic | -0.77 | Destabilizing | 0.972 | D | 0.771 | deleterious | None | None | None | None | N |
| C/Q | 0.9947 | likely_pathogenic | 0.9932 | pathogenic | -0.962 | Destabilizing | 0.972 | D | 0.764 | deleterious | None | None | None | None | N |
| C/R | 0.9919 | likely_pathogenic | 0.9893 | pathogenic | -1.238 | Destabilizing | 0.895 | D | 0.769 | deleterious | N | 0.471791225 | None | None | N |
| C/S | 0.8446 | likely_pathogenic | 0.8276 | pathogenic | -1.442 | Destabilizing | 0.709 | D | 0.668 | prob.neutral | N | 0.495820081 | None | None | N |
| C/T | 0.8951 | likely_pathogenic | 0.8927 | pathogenic | -1.102 | Destabilizing | 0.919 | D | 0.69 | prob.delet. | None | None | None | None | N |
| C/V | 0.7782 | likely_pathogenic | 0.7738 | pathogenic | -0.77 | Destabilizing | 0.444 | N | 0.653 | prob.neutral | None | None | None | None | N |
| C/W | 0.9905 | likely_pathogenic | 0.9879 | pathogenic | -1.62 | Destabilizing | 0.99 | D | 0.682 | prob.neutral | N | 0.472805183 | None | None | N |
| C/Y | 0.972 | likely_pathogenic | 0.9592 | pathogenic | -1.251 | Destabilizing | 0.679 | D | 0.666 | prob.neutral | N | 0.472044715 | 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.