Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32061 | 96406;96407;96408 | chr2:178543963;178543962;178543961 | chr2:179408690;179408689;179408688 |
| N2AB | 30420 | 91483;91484;91485 | chr2:178543963;178543962;178543961 | chr2:179408690;179408689;179408688 |
| N2A | 29493 | 88702;88703;88704 | chr2:178543963;178543962;178543961 | chr2:179408690;179408689;179408688 |
| N2B | 22996 | 69211;69212;69213 | chr2:178543963;178543962;178543961 | chr2:179408690;179408689;179408688 |
| Novex-1 | 23121 | 69586;69587;69588 | chr2:178543963;178543962;178543961 | chr2:179408690;179408689;179408688 |
| Novex-2 | 23188 | 69787;69788;69789 | chr2:178543963;178543962;178543961 | chr2:179408690;179408689;179408688 |
| 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/T | rs376202976  |
-1.944 | 1.0 | D | 0.72 | 0.674 | None | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | I | None | 1.29166E-04 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 1.65399E-04 |
| I/T | rs376202976 |
-1.944 | 1.0 | D | 0.72 | 0.674 | None | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.02908E-04 | 0 | 0 |
| I/T | rs376202976 |
-1.944 | 1.0 | D | 0.72 | 0.674 | None | gnomAD-4.0.0 | 2.91274E-05 | None | None | None | None | I | None | 4.00555E-05 | 1.66722E-05 | None | 3.37929E-05 | 0 | None | 0 | 1.64528E-04 | 3.39058E-05 | 1.09803E-05 | 0 |
| I/V | rs1437623875 |
-1.229 | 0.993 | N | 0.335 | 0.23 | 0.576343133477 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | I | None | 0 | 5.79E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/V | rs1437623875 |
-1.229 | 0.993 | N | 0.335 | 0.23 | 0.576343133477 | gnomAD-4.0.0 | 3.42117E-06 | None | None | None | None | I | None | 0 | 4.47227E-05 | None | 0 | 0 | None | 0 | 0 | 2.69852E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.4524 | ambiguous | 0.4042 | ambiguous | -1.98 | Destabilizing | 0.999 | D | 0.519 | neutral | None | None | None | None | I |
| I/C | 0.832 | likely_pathogenic | 0.8118 | pathogenic | -1.184 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| I/D | 0.9667 | likely_pathogenic | 0.9504 | pathogenic | -1.501 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| I/E | 0.8459 | likely_pathogenic | 0.8116 | pathogenic | -1.426 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| I/F | 0.3681 | ambiguous | 0.3298 | benign | -1.317 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | N | 0.502497273 | None | None | I |
| I/G | 0.901 | likely_pathogenic | 0.8692 | pathogenic | -2.39 | Highly Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| I/H | 0.8291 | likely_pathogenic | 0.7944 | pathogenic | -1.649 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| I/K | 0.6605 | likely_pathogenic | 0.6154 | pathogenic | -1.384 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| I/L | 0.2129 | likely_benign | 0.1835 | benign | -0.884 | Destabilizing | 0.993 | D | 0.334 | neutral | D | 0.532808828 | None | None | I |
| I/M | 0.1534 | likely_benign | 0.1409 | benign | -0.672 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | N | 0.513497957 | None | None | I |
| I/N | 0.7426 | likely_pathogenic | 0.6844 | pathogenic | -1.306 | Destabilizing | 1.0 | D | 0.814 | deleterious | D | 0.545088565 | None | None | I |
| I/P | 0.9545 | likely_pathogenic | 0.9291 | pathogenic | -1.22 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | I |
| I/Q | 0.7223 | likely_pathogenic | 0.6878 | pathogenic | -1.383 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| I/R | 0.5467 | ambiguous | 0.493 | ambiguous | -0.883 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| I/S | 0.5756 | likely_pathogenic | 0.5143 | ambiguous | -1.979 | Destabilizing | 1.0 | D | 0.755 | deleterious | N | 0.515525873 | None | None | I |
| I/T | 0.1819 | likely_benign | 0.1583 | benign | -1.771 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | D | 0.523248101 | None | None | I |
| I/V | 0.0916 | likely_benign | 0.0918 | benign | -1.22 | Destabilizing | 0.993 | D | 0.335 | neutral | N | 0.509486464 | None | None | I |
| I/W | 0.8931 | likely_pathogenic | 0.8729 | pathogenic | -1.483 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| I/Y | 0.8129 | likely_pathogenic | 0.7753 | pathogenic | -1.233 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
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.