Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19671 | 59236;59237;59238 | chr2:178593197;178593196;178593195 | chr2:179457924;179457923;179457922 |
| N2AB | 18030 | 54313;54314;54315 | chr2:178593197;178593196;178593195 | chr2:179457924;179457923;179457922 |
| N2A | 17103 | 51532;51533;51534 | chr2:178593197;178593196;178593195 | chr2:179457924;179457923;179457922 |
| N2B | 10606 | 32041;32042;32043 | chr2:178593197;178593196;178593195 | chr2:179457924;179457923;179457922 |
| Novex-1 | 10731 | 32416;32417;32418 | chr2:178593197;178593196;178593195 | chr2:179457924;179457923;179457922 |
| Novex-2 | 10798 | 32617;32618;32619 | chr2:178593197;178593196;178593195 | chr2:179457924;179457923;179457922 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | rs1426333344  |
None | 0.999 | N | 0.855 | 0.314 | 0.349647731962 | gnomAD-4.0.0 | 6.84381E-07 | None | None | None | None | N | None | 2.98936E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs1426333344 |
-1.144 | 1.0 | N | 0.895 | 0.334 | 0.373357554552 | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.03167E-04 | None | 0 | None | 0 | 0 | 0 |
| P/S | rs1426333344 |
-1.144 | 1.0 | N | 0.895 | 0.334 | 0.373357554552 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94024E-04 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs1426333344 |
-1.144 | 1.0 | N | 0.895 | 0.334 | 0.373357554552 | gnomAD-4.0.0 | 1.23974E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.47067E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.091 | likely_benign | 0.0869 | benign | -0.981 | Destabilizing | 0.999 | D | 0.855 | deleterious | N | 0.476477464 | None | None | N |
| P/C | 0.6367 | likely_pathogenic | 0.6079 | pathogenic | -0.741 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| P/D | 0.7774 | likely_pathogenic | 0.7542 | pathogenic | -0.572 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| P/E | 0.5126 | ambiguous | 0.5081 | ambiguous | -0.628 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| P/F | 0.6589 | likely_pathogenic | 0.6179 | pathogenic | -0.822 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| P/G | 0.4512 | ambiguous | 0.4499 | ambiguous | -1.22 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| P/H | 0.4641 | ambiguous | 0.4091 | ambiguous | -0.637 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| P/I | 0.4537 | ambiguous | 0.4312 | ambiguous | -0.463 | Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | N |
| P/K | 0.6794 | likely_pathogenic | 0.6387 | pathogenic | -0.793 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| P/L | 0.2556 | likely_benign | 0.2128 | benign | -0.463 | Destabilizing | 1.0 | D | 0.905 | deleterious | N | 0.510512679 | None | None | N |
| P/M | 0.4299 | ambiguous | 0.401 | ambiguous | -0.419 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| P/N | 0.5963 | likely_pathogenic | 0.5669 | pathogenic | -0.537 | Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| P/Q | 0.3808 | ambiguous | 0.3486 | ambiguous | -0.753 | Destabilizing | 1.0 | D | 0.898 | deleterious | N | 0.516766648 | None | None | N |
| P/R | 0.5536 | ambiguous | 0.4889 | ambiguous | -0.23 | Destabilizing | 1.0 | D | 0.923 | deleterious | N | 0.518113442 | None | None | N |
| P/S | 0.2294 | likely_benign | 0.2142 | benign | -1.022 | Destabilizing | 1.0 | D | 0.895 | deleterious | N | 0.505125502 | None | None | N |
| P/T | 0.1996 | likely_benign | 0.1774 | benign | -0.97 | Destabilizing | 1.0 | D | 0.887 | deleterious | N | 0.465515753 | None | None | N |
| P/V | 0.3051 | likely_benign | 0.289 | benign | -0.599 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| P/W | 0.8453 | likely_pathogenic | 0.8064 | pathogenic | -0.918 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| P/Y | 0.6291 | likely_pathogenic | 0.5745 | pathogenic | -0.64 | Destabilizing | 1.0 | D | 0.92 | deleterious | None | None | None | None | N |
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.