Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30503 | 91732;91733;91734 | chr2:178551024;178551023;178551022 | chr2:179415751;179415750;179415749 |
| N2AB | 28862 | 86809;86810;86811 | chr2:178551024;178551023;178551022 | chr2:179415751;179415750;179415749 |
| N2A | 27935 | 84028;84029;84030 | chr2:178551024;178551023;178551022 | chr2:179415751;179415750;179415749 |
| N2B | 21438 | 64537;64538;64539 | chr2:178551024;178551023;178551022 | chr2:179415751;179415750;179415749 |
| Novex-1 | 21563 | 64912;64913;64914 | chr2:178551024;178551023;178551022 | chr2:179415751;179415750;179415749 |
| Novex-2 | 21630 | 65113;65114;65115 | chr2:178551024;178551023;178551022 | chr2:179415751;179415750;179415749 |
| 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/E | None | None | 1.0 | D | 0.887 | 0.733 | 0.816319882103 | gnomAD-4.0.0 | 6.84395E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99598E-07 | 0 | 0 |
| G/R | rs1161946493  |
-0.593 | 1.0 | D | 0.898 | 0.758 | 0.866176943474 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs1161946493 |
-0.593 | 1.0 | D | 0.898 | 0.758 | 0.866176943474 | gnomAD-4.0.0 | 1.59221E-06 | None | None | None | None | I | None | 0 | 2.2877E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs1474006988 |
-0.421 | 1.0 | D | 0.867 | 0.717 | 0.916114892106 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.66279E-04 |
| G/V | rs1474006988 |
-0.421 | 1.0 | D | 0.867 | 0.717 | 0.916114892106 | gnomAD-4.0.0 | 6.84395E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.73611E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6581 | likely_pathogenic | 0.7228 | pathogenic | -0.338 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | D | 0.545427279 | None | None | I |
| G/C | 0.7815 | likely_pathogenic | 0.8271 | pathogenic | -0.929 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| G/D | 0.8168 | likely_pathogenic | 0.858 | pathogenic | -0.672 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | I |
| G/E | 0.8881 | likely_pathogenic | 0.9177 | pathogenic | -0.837 | Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.552175229 | None | None | I |
| G/F | 0.9689 | likely_pathogenic | 0.9769 | pathogenic | -1.049 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | I |
| G/H | 0.9284 | likely_pathogenic | 0.9477 | pathogenic | -0.548 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| G/I | 0.9662 | likely_pathogenic | 0.9767 | pathogenic | -0.491 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | I |
| G/K | 0.9584 | likely_pathogenic | 0.9706 | pathogenic | -0.901 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | I |
| G/L | 0.9276 | likely_pathogenic | 0.9481 | pathogenic | -0.491 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/M | 0.9474 | likely_pathogenic | 0.9641 | pathogenic | -0.512 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | I |
| G/N | 0.7094 | likely_pathogenic | 0.7631 | pathogenic | -0.567 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/P | 0.9967 | likely_pathogenic | 0.9973 | pathogenic | -0.407 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | I |
| G/Q | 0.8733 | likely_pathogenic | 0.9048 | pathogenic | -0.861 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | I |
| G/R | 0.9139 | likely_pathogenic | 0.9371 | pathogenic | -0.419 | Destabilizing | 1.0 | D | 0.898 | deleterious | D | 0.563785024 | None | None | I |
| G/S | 0.4163 | ambiguous | 0.4803 | ambiguous | -0.699 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/T | 0.839 | likely_pathogenic | 0.8778 | pathogenic | -0.797 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | I |
| G/V | 0.9312 | likely_pathogenic | 0.9515 | pathogenic | -0.407 | Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.541325902 | None | None | I |
| G/W | 0.9461 | likely_pathogenic | 0.9585 | pathogenic | -1.194 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | I |
| G/Y | 0.9398 | likely_pathogenic | 0.9539 | pathogenic | -0.86 | Destabilizing | 1.0 | D | 0.875 | 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.