Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 141 | 646;647;648 | chr2:178800557;178800556;178800555 | chr2:179665284;179665283;179665282 |
| N2AB | 141 | 646;647;648 | chr2:178800557;178800556;178800555 | chr2:179665284;179665283;179665282 |
| N2A | 141 | 646;647;648 | chr2:178800557;178800556;178800555 | chr2:179665284;179665283;179665282 |
| N2B | 141 | 646;647;648 | chr2:178800557;178800556;178800555 | chr2:179665284;179665283;179665282 |
| Novex-1 | 141 | 646;647;648 | chr2:178800557;178800556;178800555 | chr2:179665284;179665283;179665282 |
| Novex-2 | 141 | 646;647;648 | chr2:178800557;178800556;178800555 | chr2:179665284;179665283;179665282 |
| Novex-3 | 141 | 646;647;648 | chr2:178800557;178800556;178800555 | chr2:179665284;179665283;179665282 |
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 | rs750730828  |
-0.575 | 1.0 | D | 0.687 | 0.704 | 0.823491029573 | gnomAD-2.1.1 | 2.83E-05 | None | None | None | 0.567(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 1.95976E-04 | None | 0 | 1.55E-05 | 0 |
| G/E | rs750730828 |
-0.575 | 1.0 | D | 0.687 | 0.704 | 0.823491029573 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | 0.567(TCAP) | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 4.14422E-04 | 0 |
| G/E | rs750730828 |
-0.575 | 1.0 | D | 0.687 | 0.704 | 0.823491029573 | gnomAD-4.0.0 | 1.61088E-05 | None | None | None | 0.567(TCAP) | N | None | 0 | 0 | None | 0 | 2.22767E-05 | None | 0 | 0 | 5.08471E-06 | 1.9762E-04 | 1.60046E-05 |
| G/R | rs758547822 |
-0.266 | 0.974 | D | 0.517 | 0.757 | 0.823535708244 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | -0.016(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.8E-06 | 0 |
| G/R | rs758547822 |
-0.266 | 0.974 | D | 0.517 | 0.757 | 0.823535708244 | gnomAD-4.0.0 | 1.59049E-06 | None | None | None | -0.016(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85647E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7722 | likely_pathogenic | 0.774 | pathogenic | -0.394 | Destabilizing | 0.997 | D | 0.526 | neutral | D | 0.688595368 | None | 0.002(TCAP) | N |
| G/C | 0.9502 | likely_pathogenic | 0.9341 | pathogenic | -0.968 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | 0.642(TCAP) | N |
| G/D | 0.8463 | likely_pathogenic | 0.8177 | pathogenic | -0.531 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | 0.619(TCAP) | N |
| G/E | 0.8987 | likely_pathogenic | 0.8825 | pathogenic | -0.681 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | D | 0.628112183 | None | 0.567(TCAP) | N |
| G/F | 0.9882 | likely_pathogenic | 0.9877 | pathogenic | -1.03 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | 0.869(TCAP) | N |
| G/H | 0.9556 | likely_pathogenic | 0.9466 | pathogenic | -0.507 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | 1.056(TCAP) | N |
| G/I | 0.982 | likely_pathogenic | 0.9812 | pathogenic | -0.514 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | 0.14(TCAP) | N |
| G/K | 0.9524 | likely_pathogenic | 0.9483 | pathogenic | -0.87 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | 0.322(TCAP) | N |
| G/L | 0.9769 | likely_pathogenic | 0.9777 | pathogenic | -0.514 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | 0.14(TCAP) | N |
| G/M | 0.9738 | likely_pathogenic | 0.9729 | pathogenic | -0.632 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | 0.531(TCAP) | N |
| G/N | 0.7835 | likely_pathogenic | 0.7625 | pathogenic | -0.576 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | 0.231(TCAP) | N |
| G/P | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -0.442 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | 0.099(TCAP) | N |
| G/Q | 0.8956 | likely_pathogenic | 0.8886 | pathogenic | -0.834 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | 0.382(TCAP) | N |
| G/R | 0.9138 | likely_pathogenic | 0.9036 | pathogenic | -0.405 | Destabilizing | 0.974 | D | 0.517 | neutral | D | 0.649990115 | None | -0.016(TCAP) | N |
| G/S | 0.4854 | ambiguous | 0.4671 | ambiguous | -0.744 | Destabilizing | 0.999 | D | 0.671 | neutral | None | None | None | 0.289(TCAP) | N |
| G/T | 0.8753 | likely_pathogenic | 0.8737 | pathogenic | -0.818 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | 0.287(TCAP) | N |
| G/V | 0.9671 | likely_pathogenic | 0.9657 | pathogenic | -0.442 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | D | 0.764834722 | None | 0.099(TCAP) | N |
| G/W | 0.984 | likely_pathogenic | 0.982 | pathogenic | -1.171 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | 0.947(TCAP) | N |
| G/Y | 0.9789 | likely_pathogenic | 0.9782 | pathogenic | -0.84 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | 0.925(TCAP) | 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.