Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2204 | 6835;6836;6837 | chr2:178775101;178775100;178775099 | chr2:179639828;179639827;179639826 |
| N2AB | 2204 | 6835;6836;6837 | chr2:178775101;178775100;178775099 | chr2:179639828;179639827;179639826 |
| N2A | 2204 | 6835;6836;6837 | chr2:178775101;178775100;178775099 | chr2:179639828;179639827;179639826 |
| N2B | 2158 | 6697;6698;6699 | chr2:178775101;178775100;178775099 | chr2:179639828;179639827;179639826 |
| Novex-1 | 2158 | 6697;6698;6699 | chr2:178775101;178775100;178775099 | chr2:179639828;179639827;179639826 |
| Novex-2 | 2158 | 6697;6698;6699 | chr2:178775101;178775100;178775099 | chr2:179639828;179639827;179639826 |
| Novex-3 | 2204 | 6835;6836;6837 | chr2:178775101;178775100;178775099 | chr2:179639828;179639827;179639826 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | rs1466089767  |
None | 0.997 | N | 0.639 | 0.501 | 0.378847511475 | gnomAD-4.0.0 | 2.05233E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69795E-06 | 0 | 0 |
| K/N | rs1060500448 |
0.015 | 0.999 | N | 0.747 | 0.26 | 0.243398259712 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 2.89E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/N | rs1060500448 |
0.015 | 0.999 | N | 0.747 | 0.26 | 0.243398259712 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/N | rs1060500448 |
0.015 | 0.999 | N | 0.747 | 0.26 | 0.243398259712 | gnomAD-4.0.0 | 7.68421E-06 | None | None | None | None | N | None | 0 | 1.01688E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.3359 | likely_benign | 0.3646 | ambiguous | 0.019 | Stabilizing | 0.998 | D | 0.691 | prob.neutral | None | None | None | None | N |
| K/C | 0.7858 | likely_pathogenic | 0.7905 | pathogenic | -0.266 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| K/D | 0.4993 | ambiguous | 0.5264 | ambiguous | -0.193 | Destabilizing | 0.999 | D | 0.773 | deleterious | None | None | None | None | N |
| K/E | 0.1964 | likely_benign | 0.2265 | benign | -0.152 | Destabilizing | 0.997 | D | 0.639 | neutral | N | 0.480680471 | None | None | N |
| K/F | 0.8346 | likely_pathogenic | 0.851 | pathogenic | -0.019 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| K/G | 0.4794 | ambiguous | 0.5023 | ambiguous | -0.216 | Destabilizing | 0.999 | D | 0.697 | prob.neutral | None | None | None | None | N |
| K/H | 0.3002 | likely_benign | 0.312 | benign | -0.416 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| K/I | 0.4718 | ambiguous | 0.4993 | ambiguous | 0.576 | Stabilizing | 0.999 | D | 0.778 | deleterious | N | 0.510265346 | None | None | N |
| K/L | 0.394 | ambiguous | 0.4135 | ambiguous | 0.576 | Stabilizing | 0.999 | D | 0.697 | prob.neutral | None | None | None | None | N |
| K/M | 0.2754 | likely_benign | 0.3013 | benign | 0.086 | Stabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| K/N | 0.3728 | ambiguous | 0.4025 | ambiguous | 0.024 | Stabilizing | 0.999 | D | 0.747 | deleterious | N | 0.51303778 | None | None | N |
| K/P | 0.5532 | ambiguous | 0.5614 | ambiguous | 0.418 | Stabilizing | 0.999 | D | 0.782 | deleterious | None | None | None | None | N |
| K/Q | 0.1484 | likely_benign | 0.1614 | benign | -0.054 | Destabilizing | 0.999 | D | 0.727 | prob.delet. | N | 0.509820485 | None | None | N |
| K/R | 0.0927 | likely_benign | 0.0942 | benign | -0.167 | Destabilizing | 0.997 | D | 0.585 | neutral | D | 0.540725268 | None | None | N |
| K/S | 0.3791 | ambiguous | 0.408 | ambiguous | -0.347 | Destabilizing | 0.998 | D | 0.68 | prob.neutral | None | None | None | None | N |
| K/T | 0.1731 | likely_benign | 0.1944 | benign | -0.154 | Destabilizing | 0.999 | D | 0.749 | deleterious | N | 0.506506575 | None | None | N |
| K/V | 0.4002 | ambiguous | 0.4231 | ambiguous | 0.418 | Stabilizing | 0.999 | D | 0.753 | deleterious | None | None | None | None | N |
| K/W | 0.8052 | likely_pathogenic | 0.8175 | pathogenic | -0.087 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| K/Y | 0.7039 | likely_pathogenic | 0.7193 | pathogenic | 0.241 | Stabilizing | 1.0 | D | 0.765 | 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.