Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5908 | 17947;17948;17949 | chr2:178730943;178730942;178730941 | chr2:179595670;179595669;179595668 |
| N2AB | 5591 | 16996;16997;16998 | chr2:178730943;178730942;178730941 | chr2:179595670;179595669;179595668 |
| N2A | 4664 | 14215;14216;14217 | chr2:178730943;178730942;178730941 | chr2:179595670;179595669;179595668 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/D | None | None | 1.0 | D | 0.902 | 0.769 | 0.778173088342 | gnomAD-4.0.0 | 6.87876E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.03129E-07 | 0 | 0 |
| A/S | rs748353299  |
-1.416 | 0.998 | N | 0.629 | 0.516 | 0.418095516054 | gnomAD-2.1.1 | 8.2E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.81E-05 | 0 |
| A/S | rs748353299 |
-1.416 | 0.998 | N | 0.629 | 0.516 | 0.418095516054 | gnomAD-4.0.0 | 4.81439E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.41847E-06 | 0 | 1.66428E-05 |
| A/T | None | None | 0.996 | D | 0.664 | 0.455 | 0.422283790207 | gnomAD-4.0.0 | 6.8777E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.5236E-05 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | None | None | 0.884 | N | 0.408 | 0.328 | 0.44389696681 | gnomAD-4.0.0 | 6.87876E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.17933E-05 | 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 | 0.709 | likely_pathogenic | 0.7502 | pathogenic | -1.183 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| A/D | 0.8686 | likely_pathogenic | 0.912 | pathogenic | -1.444 | Destabilizing | 1.0 | D | 0.902 | deleterious | D | 0.533633809 | None | None | N |
| A/E | 0.7964 | likely_pathogenic | 0.8614 | pathogenic | -1.406 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| A/F | 0.731 | likely_pathogenic | 0.8153 | pathogenic | -0.985 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| A/G | 0.2455 | likely_benign | 0.2724 | benign | -1.413 | Destabilizing | 0.999 | D | 0.617 | neutral | D | 0.53633471 | None | None | N |
| A/H | 0.9127 | likely_pathogenic | 0.9436 | pathogenic | -1.6 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| A/I | 0.4467 | ambiguous | 0.5679 | pathogenic | -0.243 | Destabilizing | 0.994 | D | 0.786 | deleterious | None | None | None | None | N |
| A/K | 0.9282 | likely_pathogenic | 0.9564 | pathogenic | -1.307 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| A/L | 0.4438 | ambiguous | 0.5412 | ambiguous | -0.243 | Destabilizing | 0.994 | D | 0.659 | neutral | None | None | None | None | N |
| A/M | 0.4585 | ambiguous | 0.5437 | ambiguous | -0.288 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| A/N | 0.7689 | likely_pathogenic | 0.8295 | pathogenic | -1.164 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| A/P | 0.9653 | likely_pathogenic | 0.9796 | pathogenic | -0.474 | Destabilizing | 1.0 | D | 0.888 | deleterious | D | 0.533633809 | None | None | N |
| A/Q | 0.8184 | likely_pathogenic | 0.87 | pathogenic | -1.223 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| A/R | 0.8874 | likely_pathogenic | 0.925 | pathogenic | -1.081 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| A/S | 0.1904 | likely_benign | 0.1939 | benign | -1.61 | Destabilizing | 0.998 | D | 0.629 | neutral | N | 0.502487727 | None | None | N |
| A/T | 0.1499 | likely_benign | 0.1622 | benign | -1.456 | Destabilizing | 0.996 | D | 0.664 | neutral | D | 0.522095976 | None | None | N |
| A/V | 0.1925 | likely_benign | 0.2366 | benign | -0.474 | Destabilizing | 0.884 | D | 0.408 | neutral | N | 0.48690318 | None | None | N |
| A/W | 0.9609 | likely_pathogenic | 0.9774 | pathogenic | -1.418 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| A/Y | 0.8507 | likely_pathogenic | 0.9063 | pathogenic | -0.974 | Destabilizing | 1.0 | D | 0.919 | 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.