Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8235 | 24928;24929;24930 | chr2:178718403;178718402;178718401 | chr2:179583130;179583129;179583128 |
| N2AB | 7918 | 23977;23978;23979 | chr2:178718403;178718402;178718401 | chr2:179583130;179583129;179583128 |
| N2A | 6991 | 21196;21197;21198 | chr2:178718403;178718402;178718401 | chr2:179583130;179583129;179583128 |
| 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/M | None | None | 0.108 | N | 0.186 | 0.046 | 0.287603790349 | gnomAD-4.0.0 | 1.5913E-06 | None | None | None | None | I | None | 5.65611E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/R | None | None | None | N | 0.147 | 0.166 | 0.343560092441 | gnomAD-4.0.0 | 1.59134E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-05 | 0 |
| I/V | rs772492248  |
-0.222 | None | N | 0.111 | 0.092 | 0.0954503805726 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | I | None | 6.46E-05 | 5.8E-05 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| I/V | rs772492248 |
-0.222 | None | N | 0.111 | 0.092 | 0.0954503805726 | gnomAD-4.0.0 | 3.42108E-06 | None | None | None | None | I | None | 2.98811E-05 | 2.23614E-05 | None | 0 | 0 | None | 0 | 0 | 8.99486E-07 | 1.15934E-05 | 1.65667E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.0831 | likely_benign | 0.0783 | benign | -0.625 | Destabilizing | None | N | 0.106 | neutral | None | None | None | None | I |
| I/C | 0.4932 | ambiguous | 0.5081 | ambiguous | -0.621 | Destabilizing | 0.245 | N | 0.221 | neutral | None | None | None | None | I |
| I/D | 0.2335 | likely_benign | 0.2436 | benign | -0.189 | Destabilizing | 0.018 | N | 0.355 | neutral | None | None | None | None | I |
| I/E | 0.1583 | likely_benign | 0.1673 | benign | -0.281 | Destabilizing | 0.009 | N | 0.237 | neutral | None | None | None | None | I |
| I/F | 0.1249 | likely_benign | 0.1214 | benign | -0.63 | Destabilizing | 0.044 | N | 0.187 | neutral | None | None | None | None | I |
| I/G | 0.24 | likely_benign | 0.2247 | benign | -0.791 | Destabilizing | 0.009 | N | 0.229 | neutral | None | None | None | None | I |
| I/H | 0.2176 | likely_benign | 0.2198 | benign | -0.081 | Destabilizing | 0.245 | N | 0.341 | neutral | None | None | None | None | I |
| I/K | 0.0875 | likely_benign | 0.0867 | benign | -0.36 | Destabilizing | None | N | 0.155 | neutral | N | 0.352734602 | None | None | I |
| I/L | 0.0813 | likely_benign | 0.0844 | benign | -0.312 | Destabilizing | 0.001 | N | 0.156 | neutral | N | 0.363546242 | None | None | I |
| I/M | 0.0697 | likely_benign | 0.0699 | benign | -0.377 | Destabilizing | 0.108 | N | 0.186 | neutral | N | 0.446607556 | None | None | I |
| I/N | 0.1015 | likely_benign | 0.1105 | benign | -0.148 | Destabilizing | 0.044 | N | 0.375 | neutral | None | None | None | None | I |
| I/P | 0.1831 | likely_benign | 0.177 | benign | -0.383 | Destabilizing | 0.085 | N | 0.413 | neutral | None | None | None | None | I |
| I/Q | 0.1431 | likely_benign | 0.1415 | benign | -0.376 | Destabilizing | 0.001 | N | 0.207 | neutral | None | None | None | None | I |
| I/R | 0.0769 | likely_benign | 0.077 | benign | 0.199 | Stabilizing | None | N | 0.147 | neutral | N | 0.391194203 | None | None | I |
| I/S | 0.0939 | likely_benign | 0.0986 | benign | -0.602 | Destabilizing | 0.009 | N | 0.217 | neutral | None | None | None | None | I |
| I/T | 0.0722 | likely_benign | 0.0607 | benign | -0.585 | Destabilizing | None | N | 0.125 | neutral | N | 0.414303136 | None | None | I |
| I/V | 0.0592 | likely_benign | 0.0552 | benign | -0.383 | Destabilizing | None | N | 0.111 | neutral | N | 0.407953167 | None | None | I |
| I/W | 0.5357 | ambiguous | 0.5089 | ambiguous | -0.644 | Destabilizing | 0.788 | D | 0.327 | neutral | None | None | None | None | I |
| I/Y | 0.2925 | likely_benign | 0.3055 | benign | -0.395 | Destabilizing | 0.085 | N | 0.305 | 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.