Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31684 | 95275;95276;95277 | chr2:178546281;178546280;178546279 | chr2:179411008;179411007;179411006 |
| N2AB | 30043 | 90352;90353;90354 | chr2:178546281;178546280;178546279 | chr2:179411008;179411007;179411006 |
| N2A | 29116 | 87571;87572;87573 | chr2:178546281;178546280;178546279 | chr2:179411008;179411007;179411006 |
| N2B | 22619 | 68080;68081;68082 | chr2:178546281;178546280;178546279 | chr2:179411008;179411007;179411006 |
| Novex-1 | 22744 | 68455;68456;68457 | chr2:178546281;178546280;178546279 | chr2:179411008;179411007;179411006 |
| Novex-2 | 22811 | 68656;68657;68658 | chr2:178546281;178546280;178546279 | chr2:179411008;179411007;179411006 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs750325170  |
None | 1.0 | D | 0.807 | 0.827 | 0.819591541007 | gnomAD-4.0.0 | 6.00161E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.56251E-06 | 0 | 0 |
| G/R | rs1217644142 |
None | 1.0 | D | 0.81 | 0.817 | 0.863089639283 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs1217644142 |
None | 1.0 | D | 0.81 | 0.817 | 0.863089639283 | gnomAD-4.0.0 | 6.57082E-06 | None | None | None | None | I | None | 2.41243E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5685 | likely_pathogenic | 0.6698 | pathogenic | -0.455 | Destabilizing | 1.0 | D | 0.748 | deleterious | D | 0.581898836 | None | None | I |
| G/C | 0.8802 | likely_pathogenic | 0.9207 | pathogenic | -0.702 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | I |
| G/D | 0.9328 | likely_pathogenic | 0.9496 | pathogenic | -0.649 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | I |
| G/E | 0.9606 | likely_pathogenic | 0.9737 | pathogenic | -0.711 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.642533094 | None | None | I |
| G/F | 0.9934 | likely_pathogenic | 0.995 | pathogenic | -0.836 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | I |
| G/H | 0.9864 | likely_pathogenic | 0.9917 | pathogenic | -1.063 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | I |
| G/I | 0.9926 | likely_pathogenic | 0.9954 | pathogenic | -0.115 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | I |
| G/K | 0.9856 | likely_pathogenic | 0.9907 | pathogenic | -0.978 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/L | 0.9808 | likely_pathogenic | 0.9874 | pathogenic | -0.115 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| G/M | 0.9862 | likely_pathogenic | 0.9913 | pathogenic | -0.154 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | I |
| G/N | 0.9562 | likely_pathogenic | 0.9707 | pathogenic | -0.664 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | I |
| G/P | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -0.186 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/Q | 0.9447 | likely_pathogenic | 0.9634 | pathogenic | -0.807 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/R | 0.9481 | likely_pathogenic | 0.9643 | pathogenic | -0.719 | Destabilizing | 1.0 | D | 0.81 | deleterious | D | 0.64233129 | None | None | I |
| G/S | 0.5411 | ambiguous | 0.6466 | pathogenic | -0.931 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| G/T | 0.9411 | likely_pathogenic | 0.9646 | pathogenic | -0.901 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/V | 0.9773 | likely_pathogenic | 0.986 | pathogenic | -0.186 | Destabilizing | 1.0 | D | 0.768 | deleterious | D | 0.642533094 | None | None | I |
| G/W | 0.9886 | likely_pathogenic | 0.9917 | pathogenic | -1.215 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| G/Y | 0.9903 | likely_pathogenic | 0.9933 | pathogenic | -0.756 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | 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.