Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19801 | 59626;59627;59628 | chr2:178592604;178592603;178592602 | chr2:179457331;179457330;179457329 |
| N2AB | 18160 | 54703;54704;54705 | chr2:178592604;178592603;178592602 | chr2:179457331;179457330;179457329 |
| N2A | 17233 | 51922;51923;51924 | chr2:178592604;178592603;178592602 | chr2:179457331;179457330;179457329 |
| N2B | 10736 | 32431;32432;32433 | chr2:178592604;178592603;178592602 | chr2:179457331;179457330;179457329 |
| Novex-1 | 10861 | 32806;32807;32808 | chr2:178592604;178592603;178592602 | chr2:179457331;179457330;179457329 |
| Novex-2 | 10928 | 33007;33008;33009 | chr2:178592604;178592603;178592602 | chr2:179457331;179457330;179457329 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs202206216  |
-1.117 | 1.0 | D | 0.893 | 0.684 | 0.727257869051 | gnomAD-2.1.1 | 1.68147E-04 | None | None | None | None | I | None | 0 | 3.4002E-04 | None | 0 | 0 | None | 7.84519E-04 | None | 0 | 7.84E-05 | 1.40885E-04 |
| G/D | rs202206216 |
-1.117 | 1.0 | D | 0.893 | 0.684 | 0.727257869051 | gnomAD-3.1.2 | 1.31517E-04 | None | None | None | None | I | None | 2.41E-05 | 3.2774E-04 | 0 | 0 | 0 | None | 0 | 0 | 1.32361E-04 | 8.28844E-04 | 4.78469E-04 |
| G/D | rs202206216 |
-1.117 | 1.0 | D | 0.893 | 0.684 | 0.727257869051 | gnomAD-4.0.0 | 1.30167E-04 | None | None | None | None | I | None | 1.33543E-05 | 3.336E-04 | None | 0 | 0 | None | 0 | 0 | 8.56205E-05 | 8.78561E-04 | 1.28107E-04 |
| G/V | None | None | 1.0 | D | 0.868 | 0.749 | 0.832652385027 | gnomAD-4.0.0 | 6.8435E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65678E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5954 | likely_pathogenic | 0.5984 | pathogenic | -0.408 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.603627642 | None | None | I |
| G/C | 0.6757 | likely_pathogenic | 0.7061 | pathogenic | -0.9 | Destabilizing | 1.0 | D | 0.881 | deleterious | D | 0.608412019 | None | None | I |
| G/D | 0.6278 | likely_pathogenic | 0.6607 | pathogenic | -0.641 | Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.585761683 | None | None | I |
| G/E | 0.7386 | likely_pathogenic | 0.7695 | pathogenic | -0.801 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | I |
| G/F | 0.9565 | likely_pathogenic | 0.9612 | pathogenic | -1.12 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | I |
| G/H | 0.8552 | likely_pathogenic | 0.8675 | pathogenic | -0.666 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | I |
| G/I | 0.958 | likely_pathogenic | 0.9685 | pathogenic | -0.495 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| G/K | 0.8564 | likely_pathogenic | 0.8846 | pathogenic | -0.844 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | I |
| G/L | 0.9283 | likely_pathogenic | 0.929 | pathogenic | -0.495 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | I |
| G/M | 0.9363 | likely_pathogenic | 0.9379 | pathogenic | -0.414 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| G/N | 0.6259 | likely_pathogenic | 0.5894 | pathogenic | -0.499 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | I |
| G/P | 0.9865 | likely_pathogenic | 0.9883 | pathogenic | -0.432 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | I |
| G/Q | 0.7854 | likely_pathogenic | 0.7961 | pathogenic | -0.81 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | I |
| G/R | 0.7481 | likely_pathogenic | 0.7995 | pathogenic | -0.386 | Destabilizing | 1.0 | D | 0.904 | deleterious | D | 0.591989049 | None | None | I |
| G/S | 0.3677 | ambiguous | 0.3524 | ambiguous | -0.673 | Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.603425838 | None | None | I |
| G/T | 0.7303 | likely_pathogenic | 0.7403 | pathogenic | -0.763 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | I |
| G/V | 0.9153 | likely_pathogenic | 0.9372 | pathogenic | -0.432 | Destabilizing | 1.0 | D | 0.868 | deleterious | D | 0.645588724 | None | None | I |
| G/W | 0.8766 | likely_pathogenic | 0.9109 | pathogenic | -1.263 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | I |
| G/Y | 0.9118 | likely_pathogenic | 0.9261 | pathogenic | -0.911 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | I |
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.