Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21026 | 63301;63302;63303 | chr2:178588649;178588648;178588647 | chr2:179453376;179453375;179453374 |
| N2AB | 19385 | 58378;58379;58380 | chr2:178588649;178588648;178588647 | chr2:179453376;179453375;179453374 |
| N2A | 18458 | 55597;55598;55599 | chr2:178588649;178588648;178588647 | chr2:179453376;179453375;179453374 |
| N2B | 11961 | 36106;36107;36108 | chr2:178588649;178588648;178588647 | chr2:179453376;179453375;179453374 |
| Novex-1 | 12086 | 36481;36482;36483 | chr2:178588649;178588648;178588647 | chr2:179453376;179453375;179453374 |
| Novex-2 | 12153 | 36682;36683;36684 | chr2:178588649;178588648;178588647 | chr2:179453376;179453375;179453374 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/H | rs1383048418  |
-0.461 | 0.954 | N | 0.331 | 0.186 | 0.21737058555 | gnomAD-2.1.1 | 4.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.62E-05 | None | 0 | None | 0 | 0 | 0 |
| Q/H | rs1383048418 |
-0.461 | 0.954 | N | 0.331 | 0.186 | 0.21737058555 | gnomAD-4.0.0 | 1.60215E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77701E-05 | None | 0 | 0 | 0 | 0 | 0 |
| Q/K | rs2049579414 |
None | 0.285 | N | 0.213 | 0.173 | 0.107399877778 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78011E-04 |
| Q/K | rs2049579414 |
None | 0.285 | N | 0.213 | 0.173 | 0.107399877778 | gnomAD-4.0.0 | 6.57817E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78011E-04 |
| Q/R | rs2049578879 |
None | 0.662 | N | 0.198 | 0.16 | 0.107399877778 | gnomAD-4.0.0 | 1.60147E-06 | None | None | None | None | N | None | 5.73921E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.1333 | likely_benign | 0.1192 | benign | -0.352 | Destabilizing | 0.001 | N | 0.157 | neutral | None | None | None | None | N |
| Q/C | 0.4744 | ambiguous | 0.4248 | ambiguous | 0.079 | Stabilizing | 0.965 | D | 0.355 | neutral | None | None | None | None | N |
| Q/D | 0.3828 | ambiguous | 0.3176 | benign | -0.034 | Destabilizing | 0.345 | N | 0.185 | neutral | None | None | None | None | N |
| Q/E | 0.1087 | likely_benign | 0.0951 | benign | -0.021 | Destabilizing | 0.285 | N | 0.192 | neutral | N | 0.410831262 | None | None | N |
| Q/F | 0.6078 | likely_pathogenic | 0.5671 | pathogenic | -0.3 | Destabilizing | 0.901 | D | 0.404 | neutral | None | None | None | None | N |
| Q/G | 0.1852 | likely_benign | 0.1574 | benign | -0.605 | Destabilizing | 0.209 | N | 0.25 | neutral | None | None | None | None | N |
| Q/H | 0.1855 | likely_benign | 0.1734 | benign | -0.37 | Destabilizing | 0.954 | D | 0.331 | neutral | N | 0.459606643 | None | None | N |
| Q/I | 0.3271 | likely_benign | 0.3044 | benign | 0.247 | Stabilizing | 0.561 | D | 0.399 | neutral | None | None | None | None | N |
| Q/K | 0.0953 | likely_benign | 0.0907 | benign | -0.146 | Destabilizing | 0.285 | N | 0.213 | neutral | N | 0.407041595 | None | None | N |
| Q/L | 0.1162 | likely_benign | 0.1134 | benign | 0.247 | Stabilizing | 0.166 | N | 0.263 | neutral | N | 0.416855944 | None | None | N |
| Q/M | 0.2713 | likely_benign | 0.2493 | benign | 0.444 | Stabilizing | 0.965 | D | 0.318 | neutral | None | None | None | None | N |
| Q/N | 0.2145 | likely_benign | 0.1871 | benign | -0.51 | Destabilizing | 0.561 | D | 0.166 | neutral | None | None | None | None | N |
| Q/P | 0.093 | likely_benign | 0.0815 | benign | 0.078 | Stabilizing | 0.001 | N | 0.168 | neutral | N | 0.432246684 | None | None | N |
| Q/R | 0.1133 | likely_benign | 0.1042 | benign | 0.035 | Stabilizing | 0.662 | D | 0.198 | neutral | N | 0.383319373 | None | None | N |
| Q/S | 0.1467 | likely_benign | 0.1228 | benign | -0.545 | Destabilizing | 0.021 | N | 0.126 | neutral | None | None | None | None | N |
| Q/T | 0.1078 | likely_benign | 0.0974 | benign | -0.363 | Destabilizing | 0.002 | N | 0.157 | neutral | None | None | None | None | N |
| Q/V | 0.1901 | likely_benign | 0.1791 | benign | 0.078 | Stabilizing | 0.209 | N | 0.27 | neutral | None | None | None | None | N |
| Q/W | 0.5472 | ambiguous | 0.5081 | ambiguous | -0.228 | Destabilizing | 0.991 | D | 0.353 | neutral | None | None | None | None | N |
| Q/Y | 0.4258 | ambiguous | 0.3923 | ambiguous | -0.014 | Destabilizing | 0.965 | D | 0.395 | 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.