Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8710 | 26353;26354;26355 | chr2:178715058;178715057;178715056 | chr2:179579785;179579784;179579783 |
| N2AB | 8393 | 25402;25403;25404 | chr2:178715058;178715057;178715056 | chr2:179579785;179579784;179579783 |
| N2A | 7466 | 22621;22622;22623 | chr2:178715058;178715057;178715056 | chr2:179579785;179579784;179579783 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/F | None | None | 0.109 | N | 0.487 | 0.051 | 0.441844919209 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| I/L | rs530696557  |
-0.261 | None | N | 0.259 | 0.055 | 0.373173300195 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/L | rs530696557 |
-0.261 | None | N | 0.259 | 0.055 | 0.373173300195 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| I/M | None | None | 0.001 | N | 0.281 | 0.081 | 0.188950314367 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.0949 | likely_benign | 0.1124 | benign | -1.365 | Destabilizing | 0.001 | N | 0.145 | neutral | None | None | None | None | N |
| I/C | 0.5002 | ambiguous | 0.5782 | pathogenic | -0.928 | Destabilizing | 0.452 | N | 0.521 | neutral | None | None | None | None | N |
| I/D | 0.4539 | ambiguous | 0.621 | pathogenic | -0.443 | Destabilizing | None | N | 0.305 | neutral | None | None | None | None | N |
| I/E | 0.3318 | likely_benign | 0.4512 | ambiguous | -0.443 | Destabilizing | 0.041 | N | 0.52 | neutral | None | None | None | None | N |
| I/F | 0.1222 | likely_benign | 0.1791 | benign | -0.917 | Destabilizing | 0.109 | N | 0.487 | neutral | N | 0.476819472 | None | None | N |
| I/G | 0.3103 | likely_benign | 0.4294 | ambiguous | -1.676 | Destabilizing | 0.055 | N | 0.483 | neutral | None | None | None | None | N |
| I/H | 0.3574 | ambiguous | 0.479 | ambiguous | -0.809 | Destabilizing | 0.797 | D | 0.526 | neutral | None | None | None | None | N |
| I/K | 0.2207 | likely_benign | 0.3205 | benign | -0.85 | Destabilizing | 0.003 | N | 0.536 | neutral | None | None | None | None | N |
| I/L | 0.0974 | likely_benign | 0.1226 | benign | -0.601 | Destabilizing | None | N | 0.259 | neutral | N | 0.481859933 | None | None | N |
| I/M | 0.0768 | likely_benign | 0.0978 | benign | -0.512 | Destabilizing | 0.001 | N | 0.281 | neutral | N | 0.482531936 | None | None | N |
| I/N | 0.1845 | likely_benign | 0.2538 | benign | -0.701 | Destabilizing | 0.081 | N | 0.59 | neutral | N | 0.490402058 | None | None | N |
| I/P | 0.6057 | likely_pathogenic | 0.7462 | pathogenic | -0.823 | Destabilizing | 0.452 | N | 0.589 | neutral | None | None | None | None | N |
| I/Q | 0.2639 | likely_benign | 0.3571 | ambiguous | -0.834 | Destabilizing | 0.255 | N | 0.584 | neutral | None | None | None | None | N |
| I/R | 0.1466 | likely_benign | 0.2197 | benign | -0.309 | Destabilizing | 0.139 | N | 0.59 | neutral | None | None | None | None | N |
| I/S | 0.1211 | likely_benign | 0.151 | benign | -1.368 | Destabilizing | 0.018 | N | 0.449 | neutral | N | 0.412381205 | None | None | N |
| I/T | 0.0582 | likely_benign | 0.0631 | benign | -1.24 | Destabilizing | None | N | 0.178 | neutral | N | 0.43196983 | None | None | N |
| I/V | 0.059 | likely_benign | 0.0609 | benign | -0.823 | Destabilizing | None | N | 0.089 | neutral | N | 0.409959762 | None | None | N |
| I/W | 0.5977 | likely_pathogenic | 0.7448 | pathogenic | -0.96 | Destabilizing | 0.934 | D | 0.561 | neutral | None | None | None | None | N |
| I/Y | 0.4108 | ambiguous | 0.5282 | ambiguous | -0.729 | Destabilizing | 0.037 | N | 0.55 | 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.