Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8593 | 26002;26003;26004 | chr2:178715637;178715636;178715635 | chr2:179580364;179580363;179580362 |
| N2AB | 8276 | 25051;25052;25053 | chr2:178715637;178715636;178715635 | chr2:179580364;179580363;179580362 |
| N2A | 7349 | 22270;22271;22272 | chr2:178715637;178715636;178715635 | chr2:179580364;179580363;179580362 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/R | rs560562125  |
-0.086 | 0.92 | N | 0.329 | 0.257 | 0.260735089382 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| S/R | rs560562125 |
-0.086 | 0.92 | N | 0.329 | 0.257 | 0.260735089382 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.08247E-04 | 0 |
| S/R | rs560562125 |
-0.086 | 0.92 | N | 0.329 | 0.257 | 0.260735089382 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| S/R | rs560562125 |
-0.086 | 0.92 | N | 0.329 | 0.257 | 0.260735089382 | gnomAD-4.0.0 | 6.57255E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.0842E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1888 | likely_benign | 0.1743 | benign | -0.58 | Destabilizing | 0.004 | N | 0.35 | neutral | None | None | None | None | N |
| S/C | 0.2302 | likely_benign | 0.2295 | benign | -0.394 | Destabilizing | 0.972 | D | 0.326 | neutral | N | 0.481107885 | None | None | N |
| S/D | 0.3571 | ambiguous | 0.3526 | ambiguous | 0.371 | Stabilizing | 0.363 | N | 0.349 | neutral | None | None | None | None | N |
| S/E | 0.7001 | likely_pathogenic | 0.6801 | pathogenic | 0.309 | Stabilizing | 0.618 | D | 0.391 | neutral | None | None | None | None | N |
| S/F | 0.4726 | ambiguous | 0.4286 | ambiguous | -1.069 | Destabilizing | 0.979 | D | 0.421 | neutral | None | None | None | None | N |
| S/G | 0.0851 | likely_benign | 0.0909 | benign | -0.733 | Destabilizing | None | N | 0.179 | neutral | N | 0.459691496 | None | None | N |
| S/H | 0.5042 | ambiguous | 0.4777 | ambiguous | -1.14 | Destabilizing | 0.994 | D | 0.295 | neutral | None | None | None | None | N |
| S/I | 0.4392 | ambiguous | 0.388 | ambiguous | -0.302 | Destabilizing | 0.92 | D | 0.434 | neutral | N | 0.492375285 | None | None | N |
| S/K | 0.7768 | likely_pathogenic | 0.7616 | pathogenic | -0.474 | Destabilizing | 0.681 | D | 0.384 | neutral | None | None | None | None | N |
| S/L | 0.24 | likely_benign | 0.215 | benign | -0.302 | Destabilizing | 0.812 | D | 0.423 | neutral | None | None | None | None | N |
| S/M | 0.3842 | ambiguous | 0.3461 | ambiguous | -0.13 | Destabilizing | 0.994 | D | 0.301 | neutral | None | None | None | None | N |
| S/N | 0.1349 | likely_benign | 0.1388 | benign | -0.299 | Destabilizing | 0.048 | N | 0.409 | neutral | N | 0.454441574 | None | None | N |
| S/P | 0.8032 | likely_pathogenic | 0.7391 | pathogenic | -0.365 | Destabilizing | 0.925 | D | 0.311 | neutral | None | None | None | None | N |
| S/Q | 0.7015 | likely_pathogenic | 0.691 | pathogenic | -0.471 | Destabilizing | 0.979 | D | 0.365 | neutral | None | None | None | None | N |
| S/R | 0.7274 | likely_pathogenic | 0.7241 | pathogenic | -0.307 | Destabilizing | 0.92 | D | 0.329 | neutral | N | 0.486752972 | None | None | N |
| S/T | 0.0877 | likely_benign | 0.0854 | benign | -0.413 | Destabilizing | 0.093 | N | 0.417 | neutral | N | 0.493190781 | None | None | N |
| S/V | 0.444 | ambiguous | 0.3958 | ambiguous | -0.365 | Destabilizing | 0.85 | D | 0.418 | neutral | None | None | None | None | N |
| S/W | 0.6348 | likely_pathogenic | 0.6078 | pathogenic | -1.05 | Destabilizing | 0.994 | D | 0.521 | neutral | None | None | None | None | N |
| S/Y | 0.3761 | ambiguous | 0.3428 | ambiguous | -0.777 | Destabilizing | 0.979 | D | 0.42 | neutral | 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.