Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22194 | 66805;66806;66807 | chr2:178581688;178581687;178581686 | chr2:179446415;179446414;179446413 |
| N2AB | 20553 | 61882;61883;61884 | chr2:178581688;178581687;178581686 | chr2:179446415;179446414;179446413 |
| N2A | 19626 | 59101;59102;59103 | chr2:178581688;178581687;178581686 | chr2:179446415;179446414;179446413 |
| N2B | 13129 | 39610;39611;39612 | chr2:178581688;178581687;178581686 | chr2:179446415;179446414;179446413 |
| Novex-1 | 13254 | 39985;39986;39987 | chr2:178581688;178581687;178581686 | chr2:179446415;179446414;179446413 |
| Novex-2 | 13321 | 40186;40187;40188 | chr2:178581688;178581687;178581686 | chr2:179446415;179446414;179446413 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/K | rs768049902  |
-1.538 | 0.999 | D | 0.685 | 0.512 | 0.442363741745 | gnomAD-2.1.1 | 8.91E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 7.22591E-04 | None | 0 | 0 | 0 |
| E/K | rs768049902 |
-1.538 | 0.999 | D | 0.685 | 0.512 | 0.442363741745 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 6.21633E-04 | 0 |
| E/K | rs768049902 |
-1.538 | 0.999 | D | 0.685 | 0.512 | 0.442363741745 | gnomAD-4.0.0 | 3.5974E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.15655E-04 | 3.20574E-05 |
| E/V | rs1425317708 |
-0.726 | 1.0 | D | 0.757 | 0.525 | 0.629257994256 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 6.5E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| E/V | rs1425317708 |
-0.726 | 1.0 | D | 0.757 | 0.525 | 0.629257994256 | gnomAD-4.0.0 | 3.18897E-06 | None | None | None | None | N | None | 1.13443E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.8312 | likely_pathogenic | 0.8564 | pathogenic | -1.623 | Destabilizing | 0.999 | D | 0.696 | prob.neutral | D | 0.531899748 | None | None | N |
| E/C | 0.9846 | likely_pathogenic | 0.987 | pathogenic | -0.778 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| E/D | 0.8431 | likely_pathogenic | 0.8516 | pathogenic | -2.068 | Highly Destabilizing | 0.999 | D | 0.655 | neutral | N | 0.489855114 | None | None | N |
| E/F | 0.9917 | likely_pathogenic | 0.9921 | pathogenic | -1.362 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| E/G | 0.9413 | likely_pathogenic | 0.9541 | pathogenic | -1.967 | Destabilizing | 1.0 | D | 0.762 | deleterious | D | 0.540422124 | None | None | N |
| E/H | 0.9724 | likely_pathogenic | 0.9759 | pathogenic | -1.146 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| E/I | 0.9739 | likely_pathogenic | 0.9761 | pathogenic | -0.625 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| E/K | 0.9587 | likely_pathogenic | 0.9631 | pathogenic | -1.578 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | D | 0.53738025 | None | None | N |
| E/L | 0.9766 | likely_pathogenic | 0.9802 | pathogenic | -0.625 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| E/M | 0.9568 | likely_pathogenic | 0.9609 | pathogenic | 0.024 | Stabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| E/N | 0.9804 | likely_pathogenic | 0.9825 | pathogenic | -1.804 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| E/P | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -0.947 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| E/Q | 0.7377 | likely_pathogenic | 0.7388 | pathogenic | -1.515 | Destabilizing | 1.0 | D | 0.751 | deleterious | N | 0.471039616 | None | None | N |
| E/R | 0.9656 | likely_pathogenic | 0.9703 | pathogenic | -1.431 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| E/S | 0.918 | likely_pathogenic | 0.9328 | pathogenic | -2.337 | Highly Destabilizing | 0.999 | D | 0.741 | deleterious | None | None | None | None | N |
| E/T | 0.9616 | likely_pathogenic | 0.9687 | pathogenic | -1.998 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| E/V | 0.9315 | likely_pathogenic | 0.9377 | pathogenic | -0.947 | Destabilizing | 1.0 | D | 0.757 | deleterious | D | 0.527887277 | None | None | N |
| E/W | 0.9965 | likely_pathogenic | 0.9967 | pathogenic | -1.512 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| E/Y | 0.9859 | likely_pathogenic | 0.9864 | pathogenic | -1.217 | Destabilizing | 1.0 | D | 0.792 | 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.