Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17853 | 53782;53783;53784 | chr2:178607045;178607044;178607043 | chr2:179471772;179471771;179471770 |
| N2AB | 16212 | 48859;48860;48861 | chr2:178607045;178607044;178607043 | chr2:179471772;179471771;179471770 |
| N2A | 15285 | 46078;46079;46080 | chr2:178607045;178607044;178607043 | chr2:179471772;179471771;179471770 |
| N2B | 8788 | 26587;26588;26589 | chr2:178607045;178607044;178607043 | chr2:179471772;179471771;179471770 |
| Novex-1 | 8913 | 26962;26963;26964 | chr2:178607045;178607044;178607043 | chr2:179471772;179471771;179471770 |
| Novex-2 | 8980 | 27163;27164;27165 | chr2:178607045;178607044;178607043 | chr2:179471772;179471771;179471770 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/R | rs727503609  |
None | 1.0 | N | 0.919 | 0.551 | 0.728141607542 | gnomAD-4.0.0 | 3.19817E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8665E-06 | 0 | 3.0397E-05 |
| P/S | rs758554548 |
-0.78 | 1.0 | N | 0.844 | 0.358 | 0.444202592202 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 2.93E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/S | rs758554548 |
-0.78 | 1.0 | N | 0.844 | 0.358 | 0.444202592202 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.57E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs758554548 |
-0.78 | 1.0 | N | 0.844 | 0.358 | 0.444202592202 | gnomAD-4.0.0 | 6.58371E-06 | None | None | None | None | N | None | 0 | 6.56944E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1992 | likely_benign | 0.244 | benign | -0.684 | Destabilizing | 0.999 | D | 0.823 | deleterious | N | 0.491025609 | None | None | N |
| P/C | 0.7512 | likely_pathogenic | 0.8452 | pathogenic | -0.655 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| P/D | 0.5355 | ambiguous | 0.6702 | pathogenic | -0.572 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| P/E | 0.5092 | ambiguous | 0.6333 | pathogenic | -0.668 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| P/F | 0.8524 | likely_pathogenic | 0.9247 | pathogenic | -0.751 | Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | N |
| P/G | 0.6039 | likely_pathogenic | 0.6814 | pathogenic | -0.856 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| P/H | 0.4494 | ambiguous | 0.6101 | pathogenic | -0.329 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| P/I | 0.706 | likely_pathogenic | 0.8246 | pathogenic | -0.369 | Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| P/K | 0.6069 | likely_pathogenic | 0.7532 | pathogenic | -0.667 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| P/L | 0.3892 | ambiguous | 0.5455 | ambiguous | -0.369 | Destabilizing | 1.0 | D | 0.878 | deleterious | N | 0.517523655 | None | None | N |
| P/M | 0.6548 | likely_pathogenic | 0.7847 | pathogenic | -0.403 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| P/N | 0.4837 | ambiguous | 0.621 | pathogenic | -0.376 | Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| P/Q | 0.42 | ambiguous | 0.5655 | pathogenic | -0.632 | Destabilizing | 1.0 | D | 0.876 | deleterious | N | 0.506927818 | None | None | N |
| P/R | 0.4968 | ambiguous | 0.6577 | pathogenic | -0.077 | Destabilizing | 1.0 | D | 0.919 | deleterious | N | 0.506927818 | None | None | N |
| P/S | 0.3007 | likely_benign | 0.3923 | ambiguous | -0.749 | Destabilizing | 1.0 | D | 0.844 | deleterious | N | 0.484580374 | None | None | N |
| P/T | 0.2872 | likely_benign | 0.4039 | ambiguous | -0.746 | Destabilizing | 1.0 | D | 0.837 | deleterious | N | 0.493290107 | None | None | N |
| P/V | 0.5197 | ambiguous | 0.6584 | pathogenic | -0.438 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/W | 0.8926 | likely_pathogenic | 0.9502 | pathogenic | -0.829 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/Y | 0.7971 | likely_pathogenic | 0.8837 | pathogenic | -0.551 | Destabilizing | 1.0 | D | 0.92 | 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.