Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8601 | 26026;26027;26028 | chr2:178715613;178715612;178715611 | chr2:179580340;179580339;179580338 |
| N2AB | 8284 | 25075;25076;25077 | chr2:178715613;178715612;178715611 | chr2:179580340;179580339;179580338 |
| N2A | 7357 | 22294;22295;22296 | chr2:178715613;178715612;178715611 | chr2:179580340;179580339;179580338 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/F | rs184812963  |
-0.396 | 0.069 | N | 0.372 | 0.113 | None | gnomAD-2.1.1 | 5E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 7.1817E-04 | None | 0 | None | 0 | 0 | 0 |
| V/F | rs184812963 |
-0.396 | 0.069 | N | 0.372 | 0.113 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 3.8625E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/F | rs184812963 |
-0.396 | 0.069 | N | 0.372 | 0.113 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| V/F | rs184812963 |
-0.396 | 0.069 | N | 0.372 | 0.113 | None | gnomAD-4.0.0 | 1.42535E-05 | None | None | None | None | I | None | 0 | 1.66689E-05 | None | 0 | 4.68227E-04 | None | 0 | 0 | 0 | 0 | 1.60087E-05 |
| V/I | rs184812963 |
0.196 | None | N | 0.181 | 0.116 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/I | rs184812963 |
0.196 | None | N | 0.181 | 0.116 | None | gnomAD-4.0.0 | 5.47425E-06 | None | None | None | None | I | None | 0 | 0 | None | 3.82702E-05 | 5.03981E-05 | None | 1.87322E-05 | 0 | 1.79911E-06 | 1.15942E-05 | 1.65689E-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 | 0.0983 | likely_benign | 0.0965 | benign | -0.419 | Destabilizing | None | N | 0.137 | neutral | N | 0.486169674 | None | None | I |
| V/C | 0.6387 | likely_pathogenic | 0.6109 | pathogenic | -0.77 | Destabilizing | 0.241 | N | 0.287 | neutral | None | None | None | None | I |
| V/D | 0.1618 | likely_benign | 0.1522 | benign | 0.156 | Stabilizing | None | N | 0.215 | neutral | N | 0.443013543 | None | None | I |
| V/E | 0.1104 | likely_benign | 0.098 | benign | 0.07 | Stabilizing | None | N | 0.155 | neutral | None | None | None | None | I |
| V/F | 0.128 | likely_benign | 0.1211 | benign | -0.5 | Destabilizing | 0.069 | N | 0.372 | neutral | N | 0.521418398 | None | None | I |
| V/G | 0.1451 | likely_benign | 0.1375 | benign | -0.552 | Destabilizing | 0.015 | N | 0.329 | neutral | N | 0.489460696 | None | None | I |
| V/H | 0.2538 | likely_benign | 0.2419 | benign | -0.014 | Destabilizing | None | N | 0.258 | neutral | None | None | None | None | I |
| V/I | 0.0675 | likely_benign | 0.0676 | benign | -0.211 | Destabilizing | None | N | 0.181 | neutral | N | 0.483977518 | None | None | I |
| V/K | 0.1407 | likely_benign | 0.1323 | benign | -0.342 | Destabilizing | 0.005 | N | 0.297 | neutral | None | None | None | None | I |
| V/L | 0.1158 | likely_benign | 0.107 | benign | -0.211 | Destabilizing | None | N | 0.14 | neutral | N | 0.495213232 | None | None | I |
| V/M | 0.1063 | likely_benign | 0.0988 | benign | -0.455 | Destabilizing | 0.027 | N | 0.243 | neutral | None | None | None | None | I |
| V/N | 0.1357 | likely_benign | 0.1341 | benign | -0.229 | Destabilizing | 0.001 | N | 0.396 | neutral | None | None | None | None | I |
| V/P | 0.6161 | likely_pathogenic | 0.5734 | pathogenic | -0.247 | Destabilizing | 0.003 | N | 0.397 | neutral | None | None | None | None | I |
| V/Q | 0.1283 | likely_benign | 0.1215 | benign | -0.378 | Destabilizing | 0.004 | N | 0.422 | neutral | None | None | None | None | I |
| V/R | 0.1283 | likely_benign | 0.1195 | benign | 0.077 | Stabilizing | 0.011 | N | 0.421 | neutral | None | None | None | None | I |
| V/S | 0.1024 | likely_benign | 0.1016 | benign | -0.655 | Destabilizing | 0.002 | N | 0.259 | neutral | None | None | None | None | I |
| V/T | 0.0916 | likely_benign | 0.0892 | benign | -0.632 | Destabilizing | None | N | 0.127 | neutral | None | None | None | None | I |
| V/W | 0.5602 | ambiguous | 0.5067 | ambiguous | -0.581 | Destabilizing | 0.828 | D | 0.351 | neutral | None | None | None | None | I |
| V/Y | 0.3462 | ambiguous | 0.3268 | benign | -0.296 | Destabilizing | 0.037 | N | 0.363 | 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.