Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29914 | 89965;89966;89967 | chr2:178553160;178553159;178553158 | chr2:179417887;179417886;179417885 |
| N2AB | 28273 | 85042;85043;85044 | chr2:178553160;178553159;178553158 | chr2:179417887;179417886;179417885 |
| N2A | 27346 | 82261;82262;82263 | chr2:178553160;178553159;178553158 | chr2:179417887;179417886;179417885 |
| N2B | 20849 | 62770;62771;62772 | chr2:178553160;178553159;178553158 | chr2:179417887;179417886;179417885 |
| Novex-1 | 20974 | 63145;63146;63147 | chr2:178553160;178553159;178553158 | chr2:179417887;179417886;179417885 |
| Novex-2 | 21041 | 63346;63347;63348 | chr2:178553160;178553159;178553158 | chr2:179417887;179417886;179417885 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/K | None | None | 1.0 | N | 0.804 | 0.71 | 0.877788500525 | gnomAD-4.0.0 | 6.84375E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15961E-05 | 0 |
| I/M | rs1230340692  |
-1.705 | 1.0 | N | 0.769 | 0.457 | 0.564651752942 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| I/M | rs1230340692 |
-1.705 | 1.0 | N | 0.769 | 0.457 | 0.564651752942 | gnomAD-4.0.0 | 3.42198E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49865E-06 | 0 | 0 |
| I/T | rs952680348 |
-2.713 | 1.0 | N | 0.753 | 0.553 | 0.744584763437 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.96E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/T | rs952680348 |
-2.713 | 1.0 | N | 0.753 | 0.553 | 0.744584763437 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 2.88184E-04 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | rs952680348 |
-2.713 | 1.0 | N | 0.753 | 0.553 | 0.744584763437 | gnomAD-4.0.0 | 3.0991E-06 | None | None | None | None | N | None | 0 | 0 | None | 1.01345E-04 | 0 | None | 0 | 0 | 1.6956E-06 | 0 | 0 |
| I/V | None | None | 0.993 | N | 0.361 | 0.182 | 0.580315741719 | gnomAD-4.0.0 | 1.59212E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86043E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.5361 | ambiguous | 0.4726 | ambiguous | -2.507 | Highly Destabilizing | 0.999 | D | 0.647 | neutral | None | None | None | None | N |
| I/C | 0.9406 | likely_pathogenic | 0.933 | pathogenic | -2.018 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| I/D | 0.9986 | likely_pathogenic | 0.9977 | pathogenic | -2.591 | Highly Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| I/E | 0.9946 | likely_pathogenic | 0.9917 | pathogenic | -2.429 | Highly Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| I/F | 0.7928 | likely_pathogenic | 0.7361 | pathogenic | -1.606 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| I/G | 0.9741 | likely_pathogenic | 0.9641 | pathogenic | -3.006 | Highly Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| I/H | 0.9974 | likely_pathogenic | 0.9958 | pathogenic | -2.374 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| I/K | 0.9931 | likely_pathogenic | 0.9896 | pathogenic | -1.855 | Destabilizing | 1.0 | D | 0.804 | deleterious | N | 0.501394409 | None | None | N |
| I/L | 0.183 | likely_benign | 0.1688 | benign | -1.096 | Destabilizing | 0.993 | D | 0.411 | neutral | N | 0.386373613 | None | None | N |
| I/M | 0.2021 | likely_benign | 0.1784 | benign | -1.112 | Destabilizing | 1.0 | D | 0.769 | deleterious | N | 0.501394409 | None | None | N |
| I/N | 0.9867 | likely_pathogenic | 0.9795 | pathogenic | -2.026 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| I/P | 0.9942 | likely_pathogenic | 0.9915 | pathogenic | -1.544 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| I/Q | 0.9913 | likely_pathogenic | 0.9875 | pathogenic | -2.002 | Highly Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| I/R | 0.9866 | likely_pathogenic | 0.9801 | pathogenic | -1.466 | Destabilizing | 1.0 | D | 0.818 | deleterious | N | 0.490127009 | None | None | N |
| I/S | 0.9119 | likely_pathogenic | 0.8797 | pathogenic | -2.758 | Highly Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| I/T | 0.6597 | likely_pathogenic | 0.6025 | pathogenic | -2.453 | Highly Destabilizing | 1.0 | D | 0.753 | deleterious | N | 0.512684272 | None | None | N |
| I/V | 0.0933 | likely_benign | 0.0899 | benign | -1.544 | Destabilizing | 0.993 | D | 0.361 | neutral | N | 0.414418645 | None | None | N |
| I/W | 0.9954 | likely_pathogenic | 0.9932 | pathogenic | -1.889 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| I/Y | 0.9873 | likely_pathogenic | 0.9801 | pathogenic | -1.635 | Destabilizing | 1.0 | D | 0.8 | 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.