Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17936 | 54031;54032;54033 | chr2:178605489;178605488;178605487 | chr2:179470216;179470215;179470214 |
| N2AB | 16295 | 49108;49109;49110 | chr2:178605489;178605488;178605487 | chr2:179470216;179470215;179470214 |
| N2A | 15368 | 46327;46328;46329 | chr2:178605489;178605488;178605487 | chr2:179470216;179470215;179470214 |
| N2B | 8871 | 26836;26837;26838 | chr2:178605489;178605488;178605487 | chr2:179470216;179470215;179470214 |
| Novex-1 | 8996 | 27211;27212;27213 | chr2:178605489;178605488;178605487 | chr2:179470216;179470215;179470214 |
| Novex-2 | 9063 | 27412;27413;27414 | chr2:178605489;178605488;178605487 | chr2:179470216;179470215;179470214 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs763337826  |
-1.644 | 1.0 | N | 0.812 | 0.533 | 0.769356838489 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| R/C | rs763337826 |
-1.644 | 1.0 | N | 0.812 | 0.533 | 0.769356838489 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/C | rs763337826 |
-1.644 | 1.0 | N | 0.812 | 0.533 | 0.769356838489 | gnomAD-4.0.0 | 2.56818E-06 | None | None | None | None | N | None | 1.69526E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 2.85225E-05 |
| R/H | rs727503604 |
-2.155 | 1.0 | D | 0.807 | 0.539 | None | gnomAD-2.1.1 | 8.95E-05 | None | None | None | None | N | None | 4.14E-05 | 3.68335E-04 | None | 0 | 0 | None | 0 | None | 0 | 6.27E-05 | 4.22893E-04 |
| R/H | rs727503604 |
-2.155 | 1.0 | D | 0.807 | 0.539 | None | gnomAD-3.1.2 | 6.59E-05 | None | None | None | None | N | None | 2.42E-05 | 3.93908E-04 | 0 | 0 | 0 | None | 0 | 0 | 4.42E-05 | 0 | 0 |
| R/H | rs727503604 |
-2.155 | 1.0 | D | 0.807 | 0.539 | None | gnomAD-4.0.0 | 6.1421E-05 | None | None | None | None | N | None | 4.01434E-05 | 4.84092E-04 | None | 0 | 0 | None | 0 | 0 | 5.42943E-05 | 1.10004E-05 | 3.20749E-05 |
| R/S | rs763337826 |
-2.118 | 1.0 | N | 0.72 | 0.442 | None | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 1.24213E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| R/S | rs763337826 |
-2.118 | 1.0 | N | 0.72 | 0.442 | None | gnomAD-3.1.2 | 5.93E-05 | None | None | None | None | N | None | 2.17423E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/S | rs763337826 |
-2.118 | 1.0 | N | 0.72 | 0.442 | None | gnomAD-4.0.0 | 1.79773E-05 | None | None | None | None | N | None | 2.03431E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 4.7975E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9786 | likely_pathogenic | 0.9499 | pathogenic | -1.762 | Destabilizing | 0.999 | D | 0.602 | neutral | None | None | None | None | N |
| R/C | 0.6869 | likely_pathogenic | 0.5085 | ambiguous | -1.796 | Destabilizing | 1.0 | D | 0.812 | deleterious | N | 0.514079117 | None | None | N |
| R/D | 0.9979 | likely_pathogenic | 0.9962 | pathogenic | -0.907 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| R/E | 0.9721 | likely_pathogenic | 0.9482 | pathogenic | -0.705 | Destabilizing | 0.999 | D | 0.667 | neutral | None | None | None | None | N |
| R/F | 0.9856 | likely_pathogenic | 0.9678 | pathogenic | -1.016 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| R/G | 0.9827 | likely_pathogenic | 0.9604 | pathogenic | -2.089 | Highly Destabilizing | 1.0 | D | 0.717 | prob.delet. | D | 0.536702822 | None | None | N |
| R/H | 0.6201 | likely_pathogenic | 0.4539 | ambiguous | -2.071 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.525600006 | None | None | N |
| R/I | 0.9493 | likely_pathogenic | 0.8774 | pathogenic | -0.824 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| R/K | 0.6762 | likely_pathogenic | 0.4984 | ambiguous | -1.37 | Destabilizing | 0.998 | D | 0.629 | neutral | None | None | None | None | N |
| R/L | 0.9235 | likely_pathogenic | 0.8477 | pathogenic | -0.824 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | N | 0.502722811 | None | None | N |
| R/M | 0.9652 | likely_pathogenic | 0.9023 | pathogenic | -1.386 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| R/N | 0.9918 | likely_pathogenic | 0.9832 | pathogenic | -1.259 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| R/P | 0.9994 | likely_pathogenic | 0.9989 | pathogenic | -1.124 | Destabilizing | 1.0 | D | 0.79 | deleterious | D | 0.537209801 | None | None | N |
| R/Q | 0.5138 | ambiguous | 0.4005 | ambiguous | -1.091 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| R/S | 0.9851 | likely_pathogenic | 0.969 | pathogenic | -2.053 | Highly Destabilizing | 1.0 | D | 0.72 | prob.delet. | N | 0.510530264 | None | None | N |
| R/T | 0.9744 | likely_pathogenic | 0.9283 | pathogenic | -1.651 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| R/V | 0.9523 | likely_pathogenic | 0.895 | pathogenic | -1.124 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| R/W | 0.8471 | likely_pathogenic | 0.734 | pathogenic | -0.629 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| R/Y | 0.9625 | likely_pathogenic | 0.9239 | pathogenic | -0.441 | Destabilizing | 1.0 | D | 0.825 | 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.