Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19107 | 57544;57545;57546 | chr2:178597763;178597762;178597761 | chr2:179462490;179462489;179462488 |
| N2AB | 17466 | 52621;52622;52623 | chr2:178597763;178597762;178597761 | chr2:179462490;179462489;179462488 |
| N2A | 16539 | 49840;49841;49842 | chr2:178597763;178597762;178597761 | chr2:179462490;179462489;179462488 |
| N2B | 10042 | 30349;30350;30351 | chr2:178597763;178597762;178597761 | chr2:179462490;179462489;179462488 |
| Novex-1 | 10167 | 30724;30725;30726 | chr2:178597763;178597762;178597761 | chr2:179462490;179462489;179462488 |
| Novex-2 | 10234 | 30925;30926;30927 | chr2:178597763;178597762;178597761 | chr2:179462490;179462489;179462488 |
| 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 | 0.877 | 0.685 | 0.794487406686 | gnomAD-4.0.0 | 1.59254E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.78583E-05 | None | 0 | 0 | 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 | 0.6018 | likely_pathogenic | 0.6994 | pathogenic | -0.302 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.603859807 | None | None | I |
| G/C | 0.7645 | likely_pathogenic | 0.8181 | pathogenic | -0.826 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | I |
| G/D | 0.7432 | likely_pathogenic | 0.821 | pathogenic | -0.771 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | I |
| G/E | 0.8517 | likely_pathogenic | 0.9151 | pathogenic | -0.948 | Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.59060678 | None | None | I |
| G/F | 0.9743 | likely_pathogenic | 0.9832 | pathogenic | -1.16 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/H | 0.8439 | likely_pathogenic | 0.8938 | pathogenic | -0.531 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/I | 0.9826 | likely_pathogenic | 0.989 | pathogenic | -0.511 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | I |
| G/K | 0.831 | likely_pathogenic | 0.8906 | pathogenic | -0.707 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | I |
| G/L | 0.9471 | likely_pathogenic | 0.9645 | pathogenic | -0.511 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | I |
| G/M | 0.9534 | likely_pathogenic | 0.9699 | pathogenic | -0.365 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/N | 0.6905 | likely_pathogenic | 0.7428 | pathogenic | -0.389 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | I |
| G/P | 0.9945 | likely_pathogenic | 0.9966 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | I |
| G/Q | 0.7732 | likely_pathogenic | 0.8433 | pathogenic | -0.738 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | I |
| G/R | 0.7094 | likely_pathogenic | 0.8029 | pathogenic | -0.227 | Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.613580362 | None | None | I |
| G/S | 0.3682 | ambiguous | 0.4464 | ambiguous | -0.491 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/T | 0.7957 | likely_pathogenic | 0.8459 | pathogenic | -0.611 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | I |
| G/V | 0.9527 | likely_pathogenic | 0.9705 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.629801527 | None | None | I |
| G/W | 0.9475 | likely_pathogenic | 0.9701 | pathogenic | -1.277 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/Y | 0.9487 | likely_pathogenic | 0.9669 | pathogenic | -0.929 | Destabilizing | 1.0 | D | 0.857 | 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.