Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 13982 | 42169;42170;42171 | chr2:178635245;178635244;178635243 | chr2:179499972;179499971;179499970 |
| N2AB | 12341 | 37246;37247;37248 | chr2:178635245;178635244;178635243 | chr2:179499972;179499971;179499970 |
| N2A | 11414 | 34465;34466;34467 | chr2:178635245;178635244;178635243 | chr2:179499972;179499971;179499970 |
| N2B | 4917 | 14974;14975;14976 | chr2:178635245;178635244;178635243 | chr2:179499972;179499971;179499970 |
| Novex-1 | 5042 | 15349;15350;15351 | chr2:178635245;178635244;178635243 | chr2:179499972;179499971;179499970 |
| Novex-2 | 5109 | 15550;15551;15552 | chr2:178635245;178635244;178635243 | chr2:179499972;179499971;179499970 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | rs865925187  |
None | 0.999 | D | 0.575 | 0.359 | 0.17258766438 | gnomAD-4.0.0 | 2.05324E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 5.21014E-04 | 0 | 0 | 0 |
| A/T | rs865925187 |
None | 1.0 | D | 0.751 | 0.382 | 0.193865811164 | gnomAD-4.0.0 | 6.84412E-07 | None | None | None | None | N | None | 2.99043E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs1344724361 |
None | 0.999 | N | 0.639 | 0.395 | 0.306053231325 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs1344724361 |
None | 0.999 | N | 0.639 | 0.395 | 0.306053231325 | gnomAD-4.0.0 | 6.57825E-06 | None | None | None | None | N | None | 0 | 6.5548E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9023 | likely_pathogenic | 0.856 | pathogenic | -0.824 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| A/D | 0.9988 | likely_pathogenic | 0.9973 | pathogenic | -1.144 | Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| A/E | 0.9975 | likely_pathogenic | 0.9943 | pathogenic | -1.005 | Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.565187113 | None | None | N |
| A/F | 0.9893 | likely_pathogenic | 0.9802 | pathogenic | -0.621 | Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | N |
| A/G | 0.7917 | likely_pathogenic | 0.6458 | pathogenic | -1.28 | Destabilizing | 0.999 | D | 0.569 | neutral | D | 0.565187113 | None | None | N |
| A/H | 0.9983 | likely_pathogenic | 0.9969 | pathogenic | -1.578 | Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | None | None | N |
| A/I | 0.9385 | likely_pathogenic | 0.8526 | pathogenic | 0.297 | Stabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| A/K | 0.9989 | likely_pathogenic | 0.9969 | pathogenic | -0.954 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| A/L | 0.9202 | likely_pathogenic | 0.8493 | pathogenic | 0.297 | Stabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| A/M | 0.9779 | likely_pathogenic | 0.9485 | pathogenic | 0.13 | Stabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| A/N | 0.9966 | likely_pathogenic | 0.9947 | pathogenic | -1.006 | Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| A/P | 0.9956 | likely_pathogenic | 0.9899 | pathogenic | -0.035 | Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.565829611 | None | None | N |
| A/Q | 0.9945 | likely_pathogenic | 0.9875 | pathogenic | -0.869 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| A/R | 0.9942 | likely_pathogenic | 0.9872 | pathogenic | -1.022 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| A/S | 0.7385 | likely_pathogenic | 0.6243 | pathogenic | -1.525 | Destabilizing | 0.999 | D | 0.575 | neutral | D | 0.565011414 | None | None | N |
| A/T | 0.8272 | likely_pathogenic | 0.6824 | pathogenic | -1.239 | Destabilizing | 1.0 | D | 0.751 | deleterious | D | 0.56306621 | None | None | N |
| A/V | 0.7166 | likely_pathogenic | 0.497 | ambiguous | -0.035 | Destabilizing | 0.999 | D | 0.639 | neutral | N | 0.509776595 | None | None | N |
| A/W | 0.9996 | likely_pathogenic | 0.9991 | pathogenic | -1.221 | Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | N |
| A/Y | 0.9974 | likely_pathogenic | 0.995 | pathogenic | -0.652 | Destabilizing | 1.0 | D | 0.93 | 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.