Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29960 | 90103;90104;90105 | chr2:178553022;178553021;178553020 | chr2:179417749;179417748;179417747 |
| N2AB | 28319 | 85180;85181;85182 | chr2:178553022;178553021;178553020 | chr2:179417749;179417748;179417747 |
| N2A | 27392 | 82399;82400;82401 | chr2:178553022;178553021;178553020 | chr2:179417749;179417748;179417747 |
| N2B | 20895 | 62908;62909;62910 | chr2:178553022;178553021;178553020 | chr2:179417749;179417748;179417747 |
| Novex-1 | 21020 | 63283;63284;63285 | chr2:178553022;178553021;178553020 | chr2:179417749;179417748;179417747 |
| Novex-2 | 21087 | 63484;63485;63486 | chr2:178553022;178553021;178553020 | chr2:179417749;179417748;179417747 |
| 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/G | rs1426747610  |
-0.967 | 0.811 | D | 0.56 | 0.388 | 0.384419519794 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 6.41849E-04 | None | 0 | None | 0 | 0 | 0 |
| D/G | rs1426747610 |
-0.967 | 0.811 | D | 0.56 | 0.388 | 0.384419519794 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.92456E-04 | None | 0 | 0 | 0 | 0 | 0 |
| D/G | rs1426747610 |
-0.967 | 0.811 | D | 0.56 | 0.388 | 0.384419519794 | gnomAD-4.0.0 | 6.56961E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.92456E-04 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | None | None | 0.011 | N | 0.129 | 0.24 | 0.269558022972 | gnomAD-4.0.0 | 1.59663E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85843E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.8629 | likely_pathogenic | 0.8238 | pathogenic | -0.503 | Destabilizing | 0.896 | D | 0.633 | neutral | N | 0.503920445 | None | None | I |
| D/C | 0.9729 | likely_pathogenic | 0.9658 | pathogenic | -0.132 | Destabilizing | 0.999 | D | 0.758 | deleterious | None | None | None | None | I |
| D/E | 0.7935 | likely_pathogenic | 0.7651 | pathogenic | -0.7 | Destabilizing | 0.103 | N | 0.125 | neutral | N | 0.494512696 | None | None | I |
| D/F | 0.9837 | likely_pathogenic | 0.9775 | pathogenic | -0.443 | Destabilizing | 0.996 | D | 0.737 | prob.delet. | None | None | None | None | I |
| D/G | 0.8526 | likely_pathogenic | 0.8185 | pathogenic | -0.811 | Destabilizing | 0.811 | D | 0.56 | neutral | D | 0.529306082 | None | None | I |
| D/H | 0.9036 | likely_pathogenic | 0.868 | pathogenic | -0.84 | Destabilizing | 0.984 | D | 0.694 | prob.neutral | N | 0.517024724 | None | None | I |
| D/I | 0.9688 | likely_pathogenic | 0.9578 | pathogenic | 0.292 | Stabilizing | 0.988 | D | 0.737 | prob.delet. | None | None | None | None | I |
| D/K | 0.9714 | likely_pathogenic | 0.9644 | pathogenic | -0.271 | Destabilizing | 0.919 | D | 0.573 | neutral | None | None | None | None | I |
| D/L | 0.9601 | likely_pathogenic | 0.9455 | pathogenic | 0.292 | Stabilizing | 0.988 | D | 0.694 | prob.neutral | None | None | None | None | I |
| D/M | 0.9862 | likely_pathogenic | 0.9812 | pathogenic | 0.739 | Stabilizing | 0.999 | D | 0.724 | prob.delet. | None | None | None | None | I |
| D/N | 0.288 | likely_benign | 0.2331 | benign | -0.595 | Destabilizing | 0.011 | N | 0.129 | neutral | N | 0.47734672 | None | None | I |
| D/P | 0.9772 | likely_pathogenic | 0.9709 | pathogenic | 0.052 | Stabilizing | 0.996 | D | 0.673 | neutral | None | None | None | None | I |
| D/Q | 0.9493 | likely_pathogenic | 0.9371 | pathogenic | -0.491 | Destabilizing | 0.976 | D | 0.598 | neutral | None | None | None | None | I |
| D/R | 0.9631 | likely_pathogenic | 0.9553 | pathogenic | -0.257 | Destabilizing | 0.976 | D | 0.654 | neutral | None | None | None | None | I |
| D/S | 0.5559 | ambiguous | 0.4855 | ambiguous | -0.807 | Destabilizing | 0.851 | D | 0.54 | neutral | None | None | None | None | I |
| D/T | 0.8213 | likely_pathogenic | 0.7764 | pathogenic | -0.557 | Destabilizing | 0.919 | D | 0.618 | neutral | None | None | None | None | I |
| D/V | 0.9238 | likely_pathogenic | 0.903 | pathogenic | 0.052 | Stabilizing | 0.984 | D | 0.718 | prob.delet. | N | 0.521290684 | None | None | I |
| D/W | 0.9958 | likely_pathogenic | 0.9944 | pathogenic | -0.355 | Destabilizing | 0.999 | D | 0.745 | deleterious | None | None | None | None | I |
| D/Y | 0.8846 | likely_pathogenic | 0.8473 | pathogenic | -0.226 | Destabilizing | 0.995 | D | 0.735 | prob.delet. | D | 0.552018692 | None | None | I |
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.