Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21979 | 66160;66161;66162 | chr2:178582521;178582520;178582519 | chr2:179447248;179447247;179447246 |
| N2AB | 20338 | 61237;61238;61239 | chr2:178582521;178582520;178582519 | chr2:179447248;179447247;179447246 |
| N2A | 19411 | 58456;58457;58458 | chr2:178582521;178582520;178582519 | chr2:179447248;179447247;179447246 |
| N2B | 12914 | 38965;38966;38967 | chr2:178582521;178582520;178582519 | chr2:179447248;179447247;179447246 |
| Novex-1 | 13039 | 39340;39341;39342 | chr2:178582521;178582520;178582519 | chr2:179447248;179447247;179447246 |
| Novex-2 | 13106 | 39541;39542;39543 | chr2:178582521;178582520;178582519 | chr2:179447248;179447247;179447246 |
| 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/A | rs1360266668  |
-1.698 | 0.998 | N | 0.712 | 0.369 | 0.293147016451 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| P/L | rs773647071 |
-0.554 | 1.0 | N | 0.871 | 0.446 | None | gnomAD-2.1.1 | 2.82E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.8093E-04 | None | 0 | None | 0 | 1.78E-05 | 0 |
| P/L | rs773647071 |
-0.554 | 1.0 | N | 0.871 | 0.446 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| P/L | rs773647071 |
-0.554 | 1.0 | N | 0.871 | 0.446 | None | gnomAD-4.0.0 | 1.05413E-05 | None | None | None | None | N | None | 0 | 1.6685E-05 | None | 0 | 6.70901E-05 | None | 0 | 1.64745E-04 | 9.32763E-06 | 0 | 1.60256E-05 |
| P/Q | None | None | 1.0 | N | 0.865 | 0.461 | 0.550589291799 | gnomAD-4.0.0 | 1.36917E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79966E-06 | 0 | 0 |
| P/R | rs773647071 |
-1.048 | 1.0 | N | 0.891 | 0.453 | 0.610832418033 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| P/R | rs773647071 |
-1.048 | 1.0 | N | 0.891 | 0.453 | 0.610832418033 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/R | rs773647071 |
-1.048 | 1.0 | N | 0.891 | 0.453 | 0.610832418033 | gnomAD-4.0.0 | 6.58042E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47124E-05 | 0 | 0 |
| P/S | None | None | 0.999 | N | 0.781 | 0.386 | 0.376216005999 | gnomAD-4.0.0 | 1.59322E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43386E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0923 | likely_benign | 0.0844 | benign | -1.655 | Destabilizing | 0.998 | D | 0.712 | prob.delet. | N | 0.480792779 | None | None | N |
| P/C | 0.7254 | likely_pathogenic | 0.6551 | pathogenic | -1.051 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| P/D | 0.7798 | likely_pathogenic | 0.6986 | pathogenic | -1.892 | Destabilizing | 0.702 | D | 0.355 | neutral | None | None | None | None | N |
| P/E | 0.4788 | ambiguous | 0.3958 | ambiguous | -1.788 | Destabilizing | 0.994 | D | 0.733 | prob.delet. | None | None | None | None | N |
| P/F | 0.7909 | likely_pathogenic | 0.7078 | pathogenic | -1.135 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| P/G | 0.6439 | likely_pathogenic | 0.5278 | ambiguous | -2.055 | Highly Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| P/H | 0.4403 | ambiguous | 0.3601 | ambiguous | -1.588 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/I | 0.4619 | ambiguous | 0.3707 | ambiguous | -0.606 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| P/K | 0.3786 | ambiguous | 0.2949 | benign | -1.433 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| P/L | 0.2153 | likely_benign | 0.1653 | benign | -0.606 | Destabilizing | 1.0 | D | 0.871 | deleterious | N | 0.503990259 | None | None | N |
| P/M | 0.4196 | ambiguous | 0.3348 | benign | -0.505 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| P/N | 0.6642 | likely_pathogenic | 0.5581 | ambiguous | -1.44 | Destabilizing | 0.999 | D | 0.863 | deleterious | None | None | None | None | N |
| P/Q | 0.2749 | likely_benign | 0.2258 | benign | -1.476 | Destabilizing | 1.0 | D | 0.865 | deleterious | N | 0.489102008 | None | None | N |
| P/R | 0.3113 | likely_benign | 0.247 | benign | -1.031 | Destabilizing | 1.0 | D | 0.891 | deleterious | N | 0.491557543 | None | None | N |
| P/S | 0.3121 | likely_benign | 0.2297 | benign | -1.951 | Destabilizing | 0.999 | D | 0.781 | deleterious | N | 0.497887419 | None | None | N |
| P/T | 0.249 | likely_benign | 0.1892 | benign | -1.722 | Destabilizing | 0.999 | D | 0.799 | deleterious | N | 0.502090928 | None | None | N |
| P/V | 0.3128 | likely_benign | 0.2487 | benign | -0.925 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/W | 0.917 | likely_pathogenic | 0.8762 | pathogenic | -1.46 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/Y | 0.7589 | likely_pathogenic | 0.6545 | pathogenic | -1.104 | Destabilizing | 1.0 | D | 0.89 | 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.