Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17503 | 52732;52733;52734 | chr2:178608376;178608375;178608374 | chr2:179473103;179473102;179473101 |
| N2AB | 15862 | 47809;47810;47811 | chr2:178608376;178608375;178608374 | chr2:179473103;179473102;179473101 |
| N2A | 14935 | 45028;45029;45030 | chr2:178608376;178608375;178608374 | chr2:179473103;179473102;179473101 |
| N2B | 8438 | 25537;25538;25539 | chr2:178608376;178608375;178608374 | chr2:179473103;179473102;179473101 |
| Novex-1 | 8563 | 25912;25913;25914 | chr2:178608376;178608375;178608374 | chr2:179473103;179473102;179473101 |
| Novex-2 | 8630 | 26113;26114;26115 | chr2:178608376;178608375;178608374 | chr2:179473103;179473102;179473101 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | None | None | 1.0 | N | 0.88 | 0.693 | 0.523289841076 | gnomAD-4.0.0 | 1.59617E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43781E-05 | 0 |
| G/V | None | None | 1.0 | D | 0.891 | 0.771 | 0.694704258811 | gnomAD-4.0.0 | 4.80129E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25001E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8372 | likely_pathogenic | 0.8198 | pathogenic | -0.521 | Destabilizing | 1.0 | D | 0.595 | neutral | N | 0.491201922 | None | None | N |
| G/C | 0.9461 | likely_pathogenic | 0.9248 | pathogenic | -0.578 | Destabilizing | 1.0 | D | 0.806 | deleterious | N | 0.515688959 | None | None | N |
| G/D | 0.9889 | likely_pathogenic | 0.9834 | pathogenic | -1.615 | Destabilizing | 1.0 | D | 0.847 | deleterious | N | 0.496063767 | None | None | N |
| G/E | 0.9928 | likely_pathogenic | 0.9902 | pathogenic | -1.476 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| G/F | 0.9938 | likely_pathogenic | 0.9943 | pathogenic | -0.451 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| G/H | 0.9902 | likely_pathogenic | 0.9875 | pathogenic | -1.612 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| G/I | 0.9959 | likely_pathogenic | 0.996 | pathogenic | 0.459 | Stabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| G/K | 0.9959 | likely_pathogenic | 0.995 | pathogenic | -0.787 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| G/L | 0.9931 | likely_pathogenic | 0.9926 | pathogenic | 0.459 | Stabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| G/M | 0.9959 | likely_pathogenic | 0.9958 | pathogenic | 0.225 | Stabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/N | 0.9755 | likely_pathogenic | 0.9687 | pathogenic | -0.892 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| G/P | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | 0.176 | Stabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| G/Q | 0.9894 | likely_pathogenic | 0.9861 | pathogenic | -0.759 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| G/R | 0.986 | likely_pathogenic | 0.9821 | pathogenic | -0.944 | Destabilizing | 1.0 | D | 0.88 | deleterious | N | 0.484427519 | None | None | N |
| G/S | 0.8414 | likely_pathogenic | 0.8031 | pathogenic | -1.218 | Destabilizing | 1.0 | D | 0.672 | neutral | N | 0.477577437 | None | None | N |
| G/T | 0.9803 | likely_pathogenic | 0.9786 | pathogenic | -0.975 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| G/V | 0.9891 | likely_pathogenic | 0.9885 | pathogenic | 0.176 | Stabilizing | 1.0 | D | 0.891 | deleterious | D | 0.544046656 | None | None | N |
| G/W | 0.9888 | likely_pathogenic | 0.986 | pathogenic | -1.246 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| G/Y | 0.9846 | likely_pathogenic | 0.9846 | pathogenic | -0.616 | Destabilizing | 1.0 | D | 0.85 | 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.