Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27127 | 81604;81605;81606 | chr2:178564753;178564752;178564751 | chr2:179429480;179429479;179429478 |
| N2AB | 25486 | 76681;76682;76683 | chr2:178564753;178564752;178564751 | chr2:179429480;179429479;179429478 |
| N2A | 24559 | 73900;73901;73902 | chr2:178564753;178564752;178564751 | chr2:179429480;179429479;179429478 |
| N2B | 18062 | 54409;54410;54411 | chr2:178564753;178564752;178564751 | chr2:179429480;179429479;179429478 |
| Novex-1 | 18187 | 54784;54785;54786 | chr2:178564753;178564752;178564751 | chr2:179429480;179429479;179429478 |
| Novex-2 | 18254 | 54985;54986;54987 | chr2:178564753;178564752;178564751 | chr2:179429480;179429479;179429478 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/F | None | None | 1.0 | N | 0.733 | 0.394 | 0.49676076625 | gnomAD-4.0.0 | 6.84713E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.53062E-05 | None | 0 | 0 | 0 | 0 | 0 |
| I/L | rs1325322358  |
-0.623 | 0.993 | N | 0.385 | 0.2 | 0.423597194605 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 0 | 2.93E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/L | rs1325322358 |
-0.623 | 0.993 | N | 0.385 | 0.2 | 0.423597194605 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/L | rs1325322358 |
-0.623 | 0.993 | N | 0.385 | 0.2 | 0.423597194605 | gnomAD-4.0.0 | 1.86033E-06 | None | None | None | None | N | None | 0 | 3.34303E-05 | None | 0 | 0 | None | 0 | 0 | 8.47956E-07 | 0 | 0 |
| I/T | rs772246317 |
-2.281 | 1.0 | N | 0.717 | 0.371 | 0.550210968228 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| I/T | rs772246317 |
-2.281 | 1.0 | N | 0.717 | 0.371 | 0.550210968228 | gnomAD-4.0.0 | 1.5939E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.4341E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.8699 | likely_pathogenic | 0.8577 | pathogenic | -2.343 | Highly Destabilizing | 0.999 | D | 0.524 | neutral | None | None | None | None | N |
| I/C | 0.8714 | likely_pathogenic | 0.8589 | pathogenic | -1.552 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| I/D | 0.9959 | likely_pathogenic | 0.9952 | pathogenic | -3.026 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| I/E | 0.9866 | likely_pathogenic | 0.9847 | pathogenic | -2.756 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| I/F | 0.6668 | likely_pathogenic | 0.6381 | pathogenic | -1.367 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | N | 0.494966768 | None | None | N |
| I/G | 0.9785 | likely_pathogenic | 0.9765 | pathogenic | -2.914 | Highly Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| I/H | 0.9752 | likely_pathogenic | 0.9733 | pathogenic | -2.675 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| I/K | 0.9697 | likely_pathogenic | 0.9674 | pathogenic | -1.711 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| I/L | 0.1836 | likely_benign | 0.1879 | benign | -0.665 | Destabilizing | 0.993 | D | 0.385 | neutral | N | 0.471836084 | None | None | N |
| I/M | 0.3158 | likely_benign | 0.2967 | benign | -0.703 | Destabilizing | 1.0 | D | 0.761 | deleterious | N | 0.510108509 | None | None | N |
| I/N | 0.929 | likely_pathogenic | 0.924 | pathogenic | -2.21 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | N | 0.488201911 | None | None | N |
| I/P | 0.9846 | likely_pathogenic | 0.9831 | pathogenic | -1.209 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| I/Q | 0.9584 | likely_pathogenic | 0.9539 | pathogenic | -1.967 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| I/R | 0.9514 | likely_pathogenic | 0.9435 | pathogenic | -1.656 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| I/S | 0.8981 | likely_pathogenic | 0.8769 | pathogenic | -2.804 | Highly Destabilizing | 1.0 | D | 0.735 | prob.delet. | N | 0.466298994 | None | None | N |
| I/T | 0.8882 | likely_pathogenic | 0.8691 | pathogenic | -2.385 | Highly Destabilizing | 1.0 | D | 0.717 | prob.delet. | N | 0.463701647 | None | None | N |
| I/V | 0.1091 | likely_benign | 0.1061 | benign | -1.209 | Destabilizing | 0.993 | D | 0.369 | neutral | N | 0.454024678 | None | None | N |
| I/W | 0.9875 | likely_pathogenic | 0.9853 | pathogenic | -1.904 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| I/Y | 0.9575 | likely_pathogenic | 0.9552 | pathogenic | -1.563 | Destabilizing | 1.0 | D | 0.783 | 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.