Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32107 | 96544;96545;96546 | chr2:178543654;178543653;178543652 | chr2:179408381;179408380;179408379 |
| N2AB | 30466 | 91621;91622;91623 | chr2:178543654;178543653;178543652 | chr2:179408381;179408380;179408379 |
| N2A | 29539 | 88840;88841;88842 | chr2:178543654;178543653;178543652 | chr2:179408381;179408380;179408379 |
| N2B | 23042 | 69349;69350;69351 | chr2:178543654;178543653;178543652 | chr2:179408381;179408380;179408379 |
| Novex-1 | 23167 | 69724;69725;69726 | chr2:178543654;178543653;178543652 | chr2:179408381;179408380;179408379 |
| Novex-2 | 23234 | 69925;69926;69927 | chr2:178543654;178543653;178543652 | chr2:179408381;179408380;179408379 |
| 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/D | rs747019187  |
-2.217 | 1.0 | N | 0.829 | 0.398 | 0.318828661733 | gnomAD-2.1.1 | 4.46E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.41E-06 | 0 |
| G/D | rs747019187 |
-2.217 | 1.0 | N | 0.829 | 0.398 | 0.318828661733 | gnomAD-4.0.0 | 3.34819E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.89032E-06 | 0 | 0 |
| G/R | None | None | 1.0 | N | 0.83 | 0.46 | 0.61396450125 | gnomAD-4.0.0 | 1.67312E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.94291E-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 | 0.4106 | ambiguous | 0.4285 | ambiguous | -0.873 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | N | 0.475950687 | None | None | N |
| G/C | 0.826 | likely_pathogenic | 0.8409 | pathogenic | -1.258 | Destabilizing | 1.0 | D | 0.779 | deleterious | N | 0.517225307 | None | None | N |
| G/D | 0.9475 | likely_pathogenic | 0.9479 | pathogenic | -2.195 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | N | 0.463033765 | None | None | N |
| G/E | 0.934 | likely_pathogenic | 0.9382 | pathogenic | -2.219 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| G/F | 0.9624 | likely_pathogenic | 0.9591 | pathogenic | -1.159 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| G/H | 0.972 | likely_pathogenic | 0.9726 | pathogenic | -1.392 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| G/I | 0.9441 | likely_pathogenic | 0.9423 | pathogenic | -0.444 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/K | 0.9769 | likely_pathogenic | 0.979 | pathogenic | -1.316 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| G/L | 0.9051 | likely_pathogenic | 0.9106 | pathogenic | -0.444 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| G/M | 0.9462 | likely_pathogenic | 0.9501 | pathogenic | -0.474 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| G/N | 0.9363 | likely_pathogenic | 0.94 | pathogenic | -1.207 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| G/P | 0.9927 | likely_pathogenic | 0.993 | pathogenic | -0.549 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| G/Q | 0.9353 | likely_pathogenic | 0.9438 | pathogenic | -1.419 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| G/R | 0.9469 | likely_pathogenic | 0.9492 | pathogenic | -1.01 | Destabilizing | 1.0 | D | 0.83 | deleterious | N | 0.515957859 | None | None | N |
| G/S | 0.3557 | ambiguous | 0.3422 | ambiguous | -1.382 | Destabilizing | 1.0 | D | 0.787 | deleterious | N | 0.509181741 | None | None | N |
| G/T | 0.8381 | likely_pathogenic | 0.8462 | pathogenic | -1.345 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| G/V | 0.9004 | likely_pathogenic | 0.8987 | pathogenic | -0.549 | Destabilizing | 1.0 | D | 0.841 | deleterious | N | 0.516971817 | None | None | N |
| G/W | 0.9602 | likely_pathogenic | 0.9561 | pathogenic | -1.549 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| G/Y | 0.9566 | likely_pathogenic | 0.9591 | pathogenic | -1.133 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | 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.