Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8272 | 25039;25040;25041 | chr2:178718192;178718191;178718190 | chr2:179582919;179582918;179582917 |
| N2AB | 7955 | 24088;24089;24090 | chr2:178718192;178718191;178718190 | chr2:179582919;179582918;179582917 |
| N2A | 7028 | 21307;21308;21309 | chr2:178718192;178718191;178718190 | chr2:179582919;179582918;179582917 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/L | None | None | 0.085 | N | 0.223 | 0.279 | 0.434825671192 | gnomAD-4.0.0 | 6.88821E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00341E-07 | 0 | 0 |
| H/P | rs1299797032  |
0.423 | None | N | 0.081 | 0.277 | 0.264081493735 | gnomAD-2.1.1 | 4.13E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| H/P | rs1299797032 |
0.423 | None | N | 0.081 | 0.277 | 0.264081493735 | gnomAD-4.0.0 | 1.37764E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80068E-06 | 0 | 0 |
| H/Q | None | None | 0.519 | N | 0.251 | 0.131 | 0.115124310173 | gnomAD-4.0.0 | 1.61603E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86627E-06 | 0 | 0 |
| H/Y | None | None | 0.899 | N | 0.313 | 0.247 | 0.302793454619 | gnomAD-4.0.0 | 2.068E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.7024E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.1528 | likely_benign | 0.1479 | benign | 0.304 | Stabilizing | 0.383 | N | 0.211 | neutral | None | None | None | None | N |
| H/C | 0.2587 | likely_benign | 0.2698 | benign | 0.571 | Stabilizing | 0.957 | D | 0.206 | neutral | None | None | None | None | N |
| H/D | 0.0928 | likely_benign | 0.0977 | benign | -0.218 | Destabilizing | 0.396 | N | 0.246 | neutral | N | 0.34235069 | None | None | N |
| H/E | 0.1919 | likely_benign | 0.1807 | benign | -0.204 | Destabilizing | 0.371 | N | 0.218 | neutral | None | None | None | None | N |
| H/F | 0.3715 | ambiguous | 0.315 | benign | 0.927 | Stabilizing | 0.796 | D | 0.339 | neutral | None | None | None | None | N |
| H/G | 0.1921 | likely_benign | 0.204 | benign | 0.052 | Stabilizing | 0.743 | D | 0.243 | neutral | None | None | None | None | N |
| H/I | 0.316 | likely_benign | 0.2988 | benign | 0.936 | Stabilizing | 0.003 | N | 0.113 | neutral | None | None | None | None | N |
| H/K | 0.1841 | likely_benign | 0.185 | benign | 0.174 | Stabilizing | 0.221 | N | 0.247 | neutral | None | None | None | None | N |
| H/L | 0.1173 | likely_benign | 0.1229 | benign | 0.936 | Stabilizing | 0.085 | N | 0.223 | neutral | N | 0.423201205 | None | None | N |
| H/M | 0.4059 | ambiguous | 0.3811 | ambiguous | 0.641 | Stabilizing | 0.907 | D | 0.247 | neutral | None | None | None | None | N |
| H/N | 0.0636 | likely_benign | 0.0625 | benign | 0.077 | Stabilizing | 0.244 | N | 0.204 | neutral | N | 0.364016829 | None | None | N |
| H/P | 0.0593 | likely_benign | 0.0613 | benign | 0.749 | Stabilizing | None | N | 0.081 | neutral | N | 0.348799447 | None | None | N |
| H/Q | 0.1327 | likely_benign | 0.1323 | benign | 0.163 | Stabilizing | 0.519 | D | 0.251 | neutral | N | 0.446000707 | None | None | N |
| H/R | 0.0915 | likely_benign | 0.0974 | benign | -0.344 | Destabilizing | 0.001 | N | 0.093 | neutral | N | 0.421142335 | None | None | N |
| H/S | 0.1354 | likely_benign | 0.1359 | benign | 0.215 | Stabilizing | 0.237 | N | 0.249 | neutral | None | None | None | None | N |
| H/T | 0.1696 | likely_benign | 0.1605 | benign | 0.325 | Stabilizing | 0.006 | N | 0.099 | neutral | None | None | None | None | N |
| H/V | 0.233 | likely_benign | 0.2256 | benign | 0.749 | Stabilizing | 0.114 | N | 0.221 | neutral | None | None | None | None | N |
| H/W | 0.4918 | ambiguous | 0.47 | ambiguous | 0.876 | Stabilizing | 0.998 | D | 0.203 | neutral | None | None | None | None | N |
| H/Y | 0.1151 | likely_benign | 0.1042 | benign | 1.132 | Stabilizing | 0.899 | D | 0.313 | neutral | N | 0.469877644 | 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.