Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8798 | 26617;26618;26619 | chr2:178714382;178714381;178714380 | chr2:179579109;179579108;179579107 |
| N2AB | 8481 | 25666;25667;25668 | chr2:178714382;178714381;178714380 | chr2:179579109;179579108;179579107 |
| N2A | 7554 | 22885;22886;22887 | chr2:178714382;178714381;178714380 | chr2:179579109;179579108;179579107 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/K | None | None | None | N | 0.173 | 0.052 | 0.0846915920261 | gnomAD-4.0.0 | 6.84225E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99491E-07 | 0 | 0 |
| R/T | rs771748059  |
0.116 | None | N | 0.177 | 0.093 | 0.136095386433 | gnomAD-2.1.1 | 3.22E-05 | None | None | None | None | N | None | 0 | 8.7E-05 | None | 0 | 0 | None | 0 | None | 0 | 3.57E-05 | 1.65948E-04 |
| R/T | rs771748059 |
0.116 | None | N | 0.177 | 0.093 | 0.136095386433 | 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 |
| R/T | rs771748059 |
0.116 | None | N | 0.177 | 0.093 | 0.136095386433 | gnomAD-4.0.0 | 3.03658E-05 | None | None | None | None | N | None | 1.33511E-05 | 6.66844E-05 | None | 0 | 0 | None | 0 | 0 | 3.47529E-05 | 0 | 4.80292E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.107 | likely_benign | 0.1089 | benign | -0.265 | Destabilizing | 0.013 | N | 0.233 | neutral | None | None | None | None | N |
| R/C | 0.1227 | likely_benign | 0.1432 | benign | -0.176 | Destabilizing | 0.504 | D | 0.224 | neutral | None | None | None | None | N |
| R/D | 0.169 | likely_benign | 0.1716 | benign | -0.008 | Destabilizing | 0.029 | N | 0.241 | neutral | None | None | None | None | N |
| R/E | 0.1255 | likely_benign | 0.1355 | benign | 0.058 | Stabilizing | 0.004 | N | 0.247 | neutral | None | None | None | None | N |
| R/F | 0.2205 | likely_benign | 0.2422 | benign | -0.444 | Destabilizing | 0.288 | N | 0.315 | neutral | None | None | None | None | N |
| R/G | 0.0789 | likely_benign | 0.0837 | benign | -0.489 | Destabilizing | 0.01 | N | 0.262 | neutral | N | 0.44897307 | None | None | N |
| R/H | 0.0659 | likely_benign | 0.0673 | benign | -0.9 | Destabilizing | 0.297 | N | 0.256 | neutral | None | None | None | None | N |
| R/I | 0.113 | likely_benign | 0.1165 | benign | 0.299 | Stabilizing | 0.043 | N | 0.412 | neutral | N | 0.469023429 | None | None | N |
| R/K | 0.0684 | likely_benign | 0.074 | benign | -0.214 | Destabilizing | None | N | 0.173 | neutral | N | 0.39864025 | None | None | N |
| R/L | 0.1045 | likely_benign | 0.1128 | benign | 0.299 | Stabilizing | 0.012 | N | 0.247 | neutral | None | None | None | None | N |
| R/M | 0.115 | likely_benign | 0.12 | benign | 0.072 | Stabilizing | 0.297 | N | 0.281 | neutral | None | None | None | None | N |
| R/N | 0.1392 | likely_benign | 0.1289 | benign | 0.265 | Stabilizing | None | N | 0.155 | neutral | None | None | None | None | N |
| R/P | 0.3691 | ambiguous | 0.3806 | ambiguous | 0.132 | Stabilizing | 0.225 | N | 0.411 | neutral | None | None | None | None | N |
| R/Q | 0.0716 | likely_benign | 0.0763 | benign | 0.032 | Stabilizing | 0.095 | N | 0.319 | neutral | None | None | None | None | N |
| R/S | 0.1097 | likely_benign | 0.1094 | benign | -0.292 | Destabilizing | None | N | 0.155 | neutral | N | 0.389847409 | None | None | N |
| R/T | 0.0757 | likely_benign | 0.0725 | benign | -0.083 | Destabilizing | None | N | 0.177 | neutral | N | 0.455496398 | None | None | N |
| R/V | 0.1383 | likely_benign | 0.1388 | benign | 0.132 | Stabilizing | 0.009 | N | 0.308 | neutral | None | None | None | None | N |
| R/W | 0.1162 | likely_benign | 0.1411 | benign | -0.339 | Destabilizing | 0.946 | D | 0.227 | neutral | None | None | None | None | N |
| R/Y | 0.1687 | likely_benign | 0.1906 | benign | 0.044 | Stabilizing | 0.288 | N | 0.329 | 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.