Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21206 | 63841;63842;63843 | chr2:178587693;178587692;178587691 | chr2:179452420;179452419;179452418 |
| N2AB | 19565 | 58918;58919;58920 | chr2:178587693;178587692;178587691 | chr2:179452420;179452419;179452418 |
| N2A | 18638 | 56137;56138;56139 | chr2:178587693;178587692;178587691 | chr2:179452420;179452419;179452418 |
| N2B | 12141 | 36646;36647;36648 | chr2:178587693;178587692;178587691 | chr2:179452420;179452419;179452418 |
| Novex-1 | 12266 | 37021;37022;37023 | chr2:178587693;178587692;178587691 | chr2:179452420;179452419;179452418 |
| Novex-2 | 12333 | 37222;37223;37224 | chr2:178587693;178587692;178587691 | chr2:179452420;179452419;179452418 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs370145029  |
-1.768 | 0.977 | D | 0.64 | 0.688 | None | gnomAD-2.1.1 | 2.15E-05 | None | None | None | None | I | None | 2.48262E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs370145029 |
-1.768 | 0.977 | D | 0.64 | 0.688 | None | gnomAD-3.1.2 | 5.27E-05 | None | None | None | None | I | None | 1.93274E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | rs370145029 |
-1.768 | 0.977 | D | 0.64 | 0.688 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| V/A | rs370145029 |
-1.768 | 0.977 | D | 0.64 | 0.688 | None | gnomAD-4.0.0 | 8.68012E-06 | None | None | None | None | I | None | 1.73463E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60185E-05 |
| V/D | None | None | 0.999 | D | 0.867 | 0.88 | 0.92510636424 | gnomAD-4.0.0 | 6.84545E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99732E-07 | 0 | 0 |
| V/I | None | None | 0.117 | N | 0.315 | 0.168 | 0.601658297244 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.452 | ambiguous | 0.397 | ambiguous | -1.773 | Destabilizing | 0.977 | D | 0.64 | neutral | D | 0.5511013 | None | None | I |
| V/C | 0.801 | likely_pathogenic | 0.7961 | pathogenic | -1.172 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| V/D | 0.9356 | likely_pathogenic | 0.8955 | pathogenic | -1.815 | Destabilizing | 0.999 | D | 0.867 | deleterious | D | 0.635457431 | None | None | I |
| V/E | 0.8546 | likely_pathogenic | 0.7905 | pathogenic | -1.685 | Destabilizing | 0.999 | D | 0.875 | deleterious | None | None | None | None | I |
| V/F | 0.4594 | ambiguous | 0.4127 | ambiguous | -1.091 | Destabilizing | 0.993 | D | 0.806 | deleterious | D | 0.588974498 | None | None | I |
| V/G | 0.5823 | likely_pathogenic | 0.5034 | ambiguous | -2.219 | Highly Destabilizing | 0.999 | D | 0.878 | deleterious | D | 0.619205906 | None | None | I |
| V/H | 0.94 | likely_pathogenic | 0.9211 | pathogenic | -1.77 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | I |
| V/I | 0.0941 | likely_benign | 0.0991 | benign | -0.584 | Destabilizing | 0.117 | N | 0.315 | neutral | N | 0.472883451 | None | None | I |
| V/K | 0.8806 | likely_pathogenic | 0.8385 | pathogenic | -1.572 | Destabilizing | 0.998 | D | 0.876 | deleterious | None | None | None | None | I |
| V/L | 0.3952 | ambiguous | 0.3818 | ambiguous | -0.584 | Destabilizing | 0.898 | D | 0.647 | neutral | D | 0.559005616 | None | None | I |
| V/M | 0.3065 | likely_benign | 0.278 | benign | -0.484 | Destabilizing | 0.995 | D | 0.779 | deleterious | None | None | None | None | I |
| V/N | 0.8421 | likely_pathogenic | 0.792 | pathogenic | -1.586 | Destabilizing | 0.999 | D | 0.885 | deleterious | None | None | None | None | I |
| V/P | 0.7444 | likely_pathogenic | 0.7282 | pathogenic | -0.949 | Destabilizing | 0.999 | D | 0.875 | deleterious | None | None | None | None | I |
| V/Q | 0.8374 | likely_pathogenic | 0.7818 | pathogenic | -1.557 | Destabilizing | 0.999 | D | 0.889 | deleterious | None | None | None | None | I |
| V/R | 0.8619 | likely_pathogenic | 0.8127 | pathogenic | -1.25 | Destabilizing | 0.999 | D | 0.883 | deleterious | None | None | None | None | I |
| V/S | 0.6957 | likely_pathogenic | 0.6163 | pathogenic | -2.177 | Highly Destabilizing | 0.998 | D | 0.884 | deleterious | None | None | None | None | I |
| V/T | 0.6048 | likely_pathogenic | 0.5446 | ambiguous | -1.911 | Destabilizing | 0.983 | D | 0.751 | deleterious | None | None | None | None | I |
| V/W | 0.9563 | likely_pathogenic | 0.9437 | pathogenic | -1.44 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | I |
| V/Y | 0.8194 | likely_pathogenic | 0.7765 | pathogenic | -1.095 | Destabilizing | 0.999 | D | 0.811 | 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.