Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19124 | 57595;57596;57597 | chr2:178597712;178597711;178597710 | chr2:179462439;179462438;179462437 |
| N2AB | 17483 | 52672;52673;52674 | chr2:178597712;178597711;178597710 | chr2:179462439;179462438;179462437 |
| N2A | 16556 | 49891;49892;49893 | chr2:178597712;178597711;178597710 | chr2:179462439;179462438;179462437 |
| N2B | 10059 | 30400;30401;30402 | chr2:178597712;178597711;178597710 | chr2:179462439;179462438;179462437 |
| Novex-1 | 10184 | 30775;30776;30777 | chr2:178597712;178597711;178597710 | chr2:179462439;179462438;179462437 |
| Novex-2 | 10251 | 30976;30977;30978 | chr2:178597712;178597711;178597710 | chr2:179462439;179462438;179462437 |
| 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 | None | None | 0.517 | D | 0.623 | 0.571 | 0.557325494615 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| V/I | rs142841000  |
-0.468 | 0.019 | N | 0.205 | 0.09 | None | gnomAD-2.1.1 | 1.71905E-04 | None | None | None | None | I | None | 1.73625E-03 | 2.83E-05 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 3.14E-05 | 0 |
| V/I | rs142841000 |
-0.468 | 0.019 | N | 0.205 | 0.09 | None | gnomAD-3.1.2 | 4.67222E-04 | None | None | None | None | I | None | 1.64315E-03 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| V/I | rs142841000 |
-0.468 | 0.019 | N | 0.205 | 0.09 | 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/I | rs142841000 |
-0.468 | 0.019 | N | 0.205 | 0.09 | None | gnomAD-4.0.0 | 7.93434E-05 | None | None | None | None | I | None | 1.36083E-03 | 5.00467E-05 | None | 0 | 0 | None | 0 | 0 | 9.32556E-06 | 6.58979E-05 | 9.60676E-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 | 0.4267 | ambiguous | 0.5593 | ambiguous | -1.129 | Destabilizing | 0.517 | D | 0.623 | neutral | D | 0.570376174 | None | None | I |
| V/C | 0.7847 | likely_pathogenic | 0.8202 | pathogenic | -0.651 | Destabilizing | 0.996 | D | 0.683 | prob.neutral | None | None | None | None | I |
| V/D | 0.9338 | likely_pathogenic | 0.9693 | pathogenic | -0.819 | Destabilizing | 0.983 | D | 0.837 | deleterious | D | 0.584613372 | None | None | I |
| V/E | 0.8452 | likely_pathogenic | 0.9154 | pathogenic | -0.849 | Destabilizing | 0.987 | D | 0.815 | deleterious | None | None | None | None | I |
| V/F | 0.3378 | likely_benign | 0.4659 | ambiguous | -0.953 | Destabilizing | 0.959 | D | 0.704 | prob.neutral | D | 0.541845074 | None | None | I |
| V/G | 0.6812 | likely_pathogenic | 0.8096 | pathogenic | -1.412 | Destabilizing | 0.949 | D | 0.83 | deleterious | D | 0.568594011 | None | None | I |
| V/H | 0.9227 | likely_pathogenic | 0.96 | pathogenic | -1.05 | Destabilizing | 0.996 | D | 0.838 | deleterious | None | None | None | None | I |
| V/I | 0.0662 | likely_benign | 0.0683 | benign | -0.474 | Destabilizing | 0.019 | N | 0.205 | neutral | N | 0.430055394 | None | None | I |
| V/K | 0.85 | likely_pathogenic | 0.9216 | pathogenic | -0.934 | Destabilizing | 0.961 | D | 0.814 | deleterious | None | None | None | None | I |
| V/L | 0.2251 | likely_benign | 0.2707 | benign | -0.474 | Destabilizing | 0.17 | N | 0.483 | neutral | D | 0.557628134 | None | None | I |
| V/M | 0.1986 | likely_benign | 0.2537 | benign | -0.335 | Destabilizing | 0.923 | D | 0.618 | neutral | None | None | None | None | I |
| V/N | 0.8048 | likely_pathogenic | 0.8877 | pathogenic | -0.609 | Destabilizing | 0.987 | D | 0.84 | deleterious | None | None | None | None | I |
| V/P | 0.8599 | likely_pathogenic | 0.931 | pathogenic | -0.656 | Destabilizing | 0.987 | D | 0.817 | deleterious | None | None | None | None | I |
| V/Q | 0.8101 | likely_pathogenic | 0.8881 | pathogenic | -0.78 | Destabilizing | 0.987 | D | 0.831 | deleterious | None | None | None | None | I |
| V/R | 0.8244 | likely_pathogenic | 0.9051 | pathogenic | -0.468 | Destabilizing | 0.987 | D | 0.839 | deleterious | None | None | None | None | I |
| V/S | 0.6496 | likely_pathogenic | 0.7738 | pathogenic | -1.081 | Destabilizing | 0.961 | D | 0.778 | deleterious | None | None | None | None | I |
| V/T | 0.4697 | ambiguous | 0.5707 | pathogenic | -1.001 | Destabilizing | 0.775 | D | 0.625 | neutral | None | None | None | None | I |
| V/W | 0.9431 | likely_pathogenic | 0.975 | pathogenic | -1.137 | Destabilizing | 0.996 | D | 0.825 | deleterious | None | None | None | None | I |
| V/Y | 0.8101 | likely_pathogenic | 0.8924 | pathogenic | -0.834 | Destabilizing | 0.961 | D | 0.689 | prob.neutral | 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.