Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28445 | 85558;85559;85560 | chr2:178560799;178560798;178560797 | chr2:179425526;179425525;179425524 |
| N2AB | 26804 | 80635;80636;80637 | chr2:178560799;178560798;178560797 | chr2:179425526;179425525;179425524 |
| N2A | 25877 | 77854;77855;77856 | chr2:178560799;178560798;178560797 | chr2:179425526;179425525;179425524 |
| N2B | 19380 | 58363;58364;58365 | chr2:178560799;178560798;178560797 | chr2:179425526;179425525;179425524 |
| Novex-1 | 19505 | 58738;58739;58740 | chr2:178560799;178560798;178560797 | chr2:179425526;179425525;179425524 |
| Novex-2 | 19572 | 58939;58940;58941 | chr2:178560799;178560798;178560797 | chr2:179425526;179425525;179425524 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/Y | rs773226749  |
-1.428 | 0.97 | N | 0.815 | 0.313 | 0.593198995047 | gnomAD-2.1.1 | 2.82E-05 | None | None | None | None | N | None | 1.29349E-04 | 1.45138E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/Y | rs773226749 |
-1.428 | 0.97 | N | 0.815 | 0.313 | 0.593198995047 | gnomAD-3.1.2 | 6.57E-05 | None | None | None | None | N | None | 2.41255E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/Y | rs773226749 |
-1.428 | 0.97 | N | 0.815 | 0.313 | 0.593198995047 | gnomAD-4.0.0 | 1.17751E-05 | None | None | None | None | N | None | 1.60175E-04 | 1.00037E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60138E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.7873 | likely_pathogenic | 0.7371 | pathogenic | -1.783 | Destabilizing | 0.717 | D | 0.655 | neutral | None | None | None | None | N |
| C/D | 0.9981 | likely_pathogenic | 0.9973 | pathogenic | -1.226 | Destabilizing | 0.993 | D | 0.854 | deleterious | None | None | None | None | N |
| C/E | 0.9986 | likely_pathogenic | 0.9982 | pathogenic | -1.015 | Destabilizing | 0.978 | D | 0.847 | deleterious | None | None | None | None | N |
| C/F | 0.6228 | likely_pathogenic | 0.5895 | pathogenic | -1.139 | Destabilizing | 0.942 | D | 0.829 | deleterious | N | 0.494513359 | None | None | N |
| C/G | 0.6489 | likely_pathogenic | 0.5943 | pathogenic | -2.158 | Highly Destabilizing | 0.97 | D | 0.845 | deleterious | N | 0.495380151 | None | None | N |
| C/H | 0.9912 | likely_pathogenic | 0.9883 | pathogenic | -2.375 | Highly Destabilizing | 0.998 | D | 0.844 | deleterious | None | None | None | None | N |
| C/I | 0.5263 | ambiguous | 0.4869 | ambiguous | -0.782 | Destabilizing | 0.754 | D | 0.757 | deleterious | None | None | None | None | N |
| C/K | 0.9987 | likely_pathogenic | 0.9983 | pathogenic | -1.19 | Destabilizing | 0.978 | D | 0.857 | deleterious | None | None | None | None | N |
| C/L | 0.6001 | likely_pathogenic | 0.5764 | pathogenic | -0.782 | Destabilizing | 0.019 | N | 0.5 | neutral | None | None | None | None | N |
| C/M | 0.8402 | likely_pathogenic | 0.8163 | pathogenic | 0.198 | Stabilizing | 0.956 | D | 0.76 | deleterious | None | None | None | None | N |
| C/N | 0.9894 | likely_pathogenic | 0.9843 | pathogenic | -1.667 | Destabilizing | 0.993 | D | 0.834 | deleterious | None | None | None | None | N |
| C/P | 0.9946 | likely_pathogenic | 0.9932 | pathogenic | -1.091 | Destabilizing | 0.993 | D | 0.839 | deleterious | None | None | None | None | N |
| C/Q | 0.996 | likely_pathogenic | 0.9946 | pathogenic | -1.28 | Destabilizing | 0.993 | D | 0.848 | deleterious | None | None | None | None | N |
| C/R | 0.9903 | likely_pathogenic | 0.9883 | pathogenic | -1.468 | Destabilizing | 0.97 | D | 0.844 | deleterious | N | 0.495380151 | None | None | N |
| C/S | 0.8626 | likely_pathogenic | 0.8121 | pathogenic | -2.057 | Highly Destabilizing | 0.904 | D | 0.784 | deleterious | N | 0.495380151 | None | None | N |
| C/T | 0.8328 | likely_pathogenic | 0.7867 | pathogenic | -1.641 | Destabilizing | 0.86 | D | 0.782 | deleterious | None | None | None | None | N |
| C/V | 0.3638 | ambiguous | 0.3339 | benign | -1.091 | Destabilizing | 0.754 | D | 0.709 | prob.delet. | None | None | None | None | N |
| C/W | 0.9636 | likely_pathogenic | 0.9544 | pathogenic | -1.407 | Destabilizing | 0.997 | D | 0.823 | deleterious | N | 0.495380151 | None | None | N |
| C/Y | 0.8871 | likely_pathogenic | 0.858 | pathogenic | -1.267 | Destabilizing | 0.97 | D | 0.815 | deleterious | N | 0.495380151 | 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.