Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27483 | 82672;82673;82674 | chr2:178563685;178563684;178563683 | chr2:179428412;179428411;179428410 |
| N2AB | 25842 | 77749;77750;77751 | chr2:178563685;178563684;178563683 | chr2:179428412;179428411;179428410 |
| N2A | 24915 | 74968;74969;74970 | chr2:178563685;178563684;178563683 | chr2:179428412;179428411;179428410 |
| N2B | 18418 | 55477;55478;55479 | chr2:178563685;178563684;178563683 | chr2:179428412;179428411;179428410 |
| Novex-1 | 18543 | 55852;55853;55854 | chr2:178563685;178563684;178563683 | chr2:179428412;179428411;179428410 |
| Novex-2 | 18610 | 56053;56054;56055 | chr2:178563685;178563684;178563683 | chr2:179428412;179428411;179428410 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/Q | rs188940525  |
-0.349 | 0.521 | N | 0.405 | 0.266 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| K/Q | rs188940525 |
-0.349 | 0.521 | N | 0.405 | 0.266 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| K/Q | rs188940525 |
-0.349 | 0.521 | N | 0.405 | 0.266 | None | gnomAD-4.0.0 | 4.95733E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.93345E-06 | 1.09798E-05 | 0 |
| K/R | rs937111656 |
None | 0.003 | N | 0.097 | 0.043 | 0.206339911435 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| K/R | rs937111656 |
None | 0.003 | N | 0.097 | 0.043 | 0.206339911435 | gnomAD-4.0.0 | 4.33812E-06 | None | None | None | None | N | None | 1.33565E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 4.23821E-06 | 1.09796E-05 | 0 |
| K/T | None | None | 0.684 | N | 0.365 | 0.165 | 0.246773566709 | gnomAD-4.0.0 | 2.05263E-06 | None | None | None | None | N | None | 0 | 6.70841E-05 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.5072 | ambiguous | 0.4811 | ambiguous | -0.178 | Destabilizing | 0.543 | D | 0.339 | neutral | None | None | None | None | N |
| K/C | 0.8161 | likely_pathogenic | 0.8231 | pathogenic | -0.252 | Destabilizing | 0.996 | D | 0.575 | neutral | None | None | None | None | N |
| K/D | 0.8984 | likely_pathogenic | 0.8883 | pathogenic | -0.437 | Destabilizing | 0.59 | D | 0.333 | neutral | None | None | None | None | N |
| K/E | 0.4406 | ambiguous | 0.4164 | ambiguous | -0.432 | Destabilizing | 0.007 | N | 0.147 | neutral | N | 0.50818445 | None | None | N |
| K/F | 0.9643 | likely_pathogenic | 0.9676 | pathogenic | -0.54 | Destabilizing | 0.984 | D | 0.512 | neutral | None | None | None | None | N |
| K/G | 0.509 | ambiguous | 0.4862 | ambiguous | -0.407 | Destabilizing | 0.742 | D | 0.41 | neutral | None | None | None | None | N |
| K/H | 0.5282 | ambiguous | 0.5358 | ambiguous | -0.939 | Destabilizing | 0.953 | D | 0.403 | neutral | None | None | None | None | N |
| K/I | 0.8608 | likely_pathogenic | 0.8662 | pathogenic | 0.354 | Stabilizing | 0.939 | D | 0.527 | neutral | N | 0.494183527 | None | None | N |
| K/L | 0.78 | likely_pathogenic | 0.7806 | pathogenic | 0.354 | Stabilizing | 0.742 | D | 0.425 | neutral | None | None | None | None | N |
| K/M | 0.6003 | likely_pathogenic | 0.6004 | pathogenic | 0.555 | Stabilizing | 0.996 | D | 0.398 | neutral | None | None | None | None | N |
| K/N | 0.7904 | likely_pathogenic | 0.7809 | pathogenic | 0.017 | Stabilizing | 0.684 | D | 0.341 | neutral | N | 0.5180948 | None | None | N |
| K/P | 0.8884 | likely_pathogenic | 0.8678 | pathogenic | 0.205 | Stabilizing | 0.953 | D | 0.419 | neutral | None | None | None | None | N |
| K/Q | 0.2491 | likely_benign | 0.2429 | benign | -0.326 | Destabilizing | 0.521 | D | 0.405 | neutral | N | 0.477040324 | None | None | N |
| K/R | 0.074 | likely_benign | 0.0755 | benign | -0.061 | Destabilizing | 0.003 | N | 0.097 | neutral | N | 0.468418128 | None | None | N |
| K/S | 0.6375 | likely_pathogenic | 0.6081 | pathogenic | -0.479 | Destabilizing | 0.742 | D | 0.311 | neutral | None | None | None | None | N |
| K/T | 0.5389 | ambiguous | 0.5132 | ambiguous | -0.323 | Destabilizing | 0.684 | D | 0.365 | neutral | N | 0.510936754 | None | None | N |
| K/V | 0.7624 | likely_pathogenic | 0.7556 | pathogenic | 0.205 | Stabilizing | 0.953 | D | 0.431 | neutral | None | None | None | None | N |
| K/W | 0.9269 | likely_pathogenic | 0.9279 | pathogenic | -0.485 | Destabilizing | 0.996 | D | 0.627 | neutral | None | None | None | None | N |
| K/Y | 0.8972 | likely_pathogenic | 0.9056 | pathogenic | -0.075 | Destabilizing | 0.984 | D | 0.489 | 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.