Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29993 | 90202;90203;90204 | chr2:178552923;178552922;178552921 | chr2:179417650;179417649;179417648 |
| N2AB | 28352 | 85279;85280;85281 | chr2:178552923;178552922;178552921 | chr2:179417650;179417649;179417648 |
| N2A | 27425 | 82498;82499;82500 | chr2:178552923;178552922;178552921 | chr2:179417650;179417649;179417648 |
| N2B | 20928 | 63007;63008;63009 | chr2:178552923;178552922;178552921 | chr2:179417650;179417649;179417648 |
| Novex-1 | 21053 | 63382;63383;63384 | chr2:178552923;178552922;178552921 | chr2:179417650;179417649;179417648 |
| Novex-2 | 21120 | 63583;63584;63585 | chr2:178552923;178552922;178552921 | chr2:179417650;179417649;179417648 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/R | rs1322969533  |
None | 0.999 | N | 0.56 | 0.223 | 0.388970301349 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 2.62055E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/R | rs1322969533 |
None | 0.999 | N | 0.56 | 0.223 | 0.388970301349 | gnomAD-4.0.0 | 5.07491E-06 | None | None | None | None | N | None | 0 | 3.0773E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.5528 | ambiguous | 0.518 | ambiguous | -0.439 | Destabilizing | 0.999 | D | 0.714 | prob.delet. | None | None | None | None | N |
| K/C | 0.6837 | likely_pathogenic | 0.6669 | pathogenic | -0.591 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| K/D | 0.77 | likely_pathogenic | 0.7239 | pathogenic | 0.311 | Stabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| K/E | 0.3363 | likely_benign | 0.3008 | benign | 0.407 | Stabilizing | 0.999 | D | 0.603 | neutral | N | 0.505704293 | None | None | N |
| K/F | 0.8449 | likely_pathogenic | 0.8204 | pathogenic | -0.303 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| K/G | 0.7103 | likely_pathogenic | 0.6847 | pathogenic | -0.744 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| K/H | 0.2856 | likely_benign | 0.2633 | benign | -0.881 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| K/I | 0.4167 | ambiguous | 0.3856 | ambiguous | 0.323 | Stabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| K/L | 0.4433 | ambiguous | 0.4114 | ambiguous | 0.323 | Stabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| K/M | 0.3465 | ambiguous | 0.3278 | benign | 0.007 | Stabilizing | 1.0 | D | 0.763 | deleterious | N | 0.486928599 | None | None | N |
| K/N | 0.605 | likely_pathogenic | 0.5449 | ambiguous | -0.232 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | N | 0.468063875 | None | None | N |
| K/P | 0.7361 | likely_pathogenic | 0.6998 | pathogenic | 0.099 | Stabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| K/Q | 0.1434 | likely_benign | 0.1359 | benign | -0.26 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | N | 0.508917956 | None | None | N |
| K/R | 0.0806 | likely_benign | 0.08 | benign | -0.24 | Destabilizing | 0.999 | D | 0.56 | neutral | N | 0.449197649 | None | None | N |
| K/S | 0.5409 | ambiguous | 0.5042 | ambiguous | -0.895 | Destabilizing | 0.999 | D | 0.663 | neutral | None | None | None | None | N |
| K/T | 0.2124 | likely_benign | 0.1931 | benign | -0.597 | Destabilizing | 1.0 | D | 0.782 | deleterious | N | 0.464294813 | None | None | N |
| K/V | 0.3972 | ambiguous | 0.3666 | ambiguous | 0.099 | Stabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| K/W | 0.8287 | likely_pathogenic | 0.8163 | pathogenic | -0.217 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| K/Y | 0.7 | likely_pathogenic | 0.6683 | pathogenic | 0.088 | Stabilizing | 1.0 | D | 0.795 | 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.