Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22627 | 68104;68105;68106 | chr2:178579151;178579150;178579149 | chr2:179443878;179443877;179443876 |
| N2AB | 20986 | 63181;63182;63183 | chr2:178579151;178579150;178579149 | chr2:179443878;179443877;179443876 |
| N2A | 20059 | 60400;60401;60402 | chr2:178579151;178579150;178579149 | chr2:179443878;179443877;179443876 |
| N2B | 13562 | 40909;40910;40911 | chr2:178579151;178579150;178579149 | chr2:179443878;179443877;179443876 |
| Novex-1 | 13687 | 41284;41285;41286 | chr2:178579151;178579150;178579149 | chr2:179443878;179443877;179443876 |
| Novex-2 | 13754 | 41485;41486;41487 | chr2:178579151;178579150;178579149 | chr2:179443878;179443877;179443876 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | None | None | 0.999 | D | 0.62 | 0.653 | 0.329540904979 | gnomAD-4.0.0 | 1.59202E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02608E-05 |
| N/K | rs561184293  |
-0.205 | 1.0 | D | 0.732 | 0.558 | 0.211220785272 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 9.8E-05 | None | 0 | 0 | 0 |
| N/K | rs561184293 |
-0.205 | 1.0 | D | 0.732 | 0.558 | 0.211220785272 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| N/K | rs561184293 |
-0.205 | 1.0 | D | 0.732 | 0.558 | 0.211220785272 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| N/K | rs561184293 |
-0.205 | 1.0 | D | 0.732 | 0.558 | 0.211220785272 | gnomAD-4.0.0 | 6.81767E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.20776E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9942 | likely_pathogenic | 0.9914 | pathogenic | -0.704 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | I |
| N/C | 0.9664 | likely_pathogenic | 0.9558 | pathogenic | 0.08 | Stabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | I |
| N/D | 0.9835 | likely_pathogenic | 0.9785 | pathogenic | -0.848 | Destabilizing | 0.999 | D | 0.62 | neutral | D | 0.522304643 | None | None | I |
| N/E | 0.9976 | likely_pathogenic | 0.997 | pathogenic | -0.831 | Destabilizing | 0.999 | D | 0.717 | prob.delet. | None | None | None | None | I |
| N/F | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -0.897 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | I |
| N/G | 0.981 | likely_pathogenic | 0.9741 | pathogenic | -0.945 | Destabilizing | 0.999 | D | 0.561 | neutral | None | None | None | None | I |
| N/H | 0.9806 | likely_pathogenic | 0.9758 | pathogenic | -0.987 | Destabilizing | 1.0 | D | 0.751 | deleterious | D | 0.53509298 | None | None | I |
| N/I | 0.9942 | likely_pathogenic | 0.9925 | pathogenic | -0.13 | Destabilizing | 1.0 | D | 0.745 | deleterious | N | 0.491896257 | None | None | I |
| N/K | 0.999 | likely_pathogenic | 0.9987 | pathogenic | -0.183 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | D | 0.534586001 | None | None | I |
| N/L | 0.9904 | likely_pathogenic | 0.9878 | pathogenic | -0.13 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| N/M | 0.9923 | likely_pathogenic | 0.9903 | pathogenic | 0.546 | Stabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | I |
| N/P | 0.9989 | likely_pathogenic | 0.9987 | pathogenic | -0.295 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| N/Q | 0.9983 | likely_pathogenic | 0.9978 | pathogenic | -0.939 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | I |
| N/R | 0.9984 | likely_pathogenic | 0.998 | pathogenic | -0.069 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | I |
| N/S | 0.8248 | likely_pathogenic | 0.7797 | pathogenic | -0.623 | Destabilizing | 0.999 | D | 0.583 | neutral | N | 0.489361362 | None | None | I |
| N/T | 0.9477 | likely_pathogenic | 0.936 | pathogenic | -0.452 | Destabilizing | 0.999 | D | 0.709 | prob.delet. | D | 0.534079022 | None | None | I |
| N/V | 0.9921 | likely_pathogenic | 0.9893 | pathogenic | -0.295 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| N/W | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -0.741 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| N/Y | 0.9931 | likely_pathogenic | 0.991 | pathogenic | -0.492 | Destabilizing | 1.0 | D | 0.761 | deleterious | D | 0.53509298 | 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.