Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14214 | 42865;42866;42867 | chr2:178633859;178633858;178633857 | chr2:179498586;179498585;179498584 |
| N2AB | 12573 | 37942;37943;37944 | chr2:178633859;178633858;178633857 | chr2:179498586;179498585;179498584 |
| N2A | 11646 | 35161;35162;35163 | chr2:178633859;178633858;178633857 | chr2:179498586;179498585;179498584 |
| N2B | 5149 | 15670;15671;15672 | chr2:178633859;178633858;178633857 | chr2:179498586;179498585;179498584 |
| Novex-1 | 5274 | 16045;16046;16047 | chr2:178633859;178633858;178633857 | chr2:179498586;179498585;179498584 |
| Novex-2 | 5341 | 16246;16247;16248 | chr2:178633859;178633858;178633857 | chr2:179498586;179498585;179498584 |
| 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/E | rs1188613689  |
-0.177 | None | N | 0.14 | 0.162 | 0.28297238246 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| Q/E | rs1188613689 |
-0.177 | None | N | 0.14 | 0.162 | 0.28297238246 | gnomAD-4.0.0 | 2.73757E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69882E-06 | 0 | 1.65717E-05 |
| Q/P | None | None | 0.662 | N | 0.514 | 0.366 | 0.367612772649 | gnomAD-4.0.0 | 2.73803E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59924E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.2875 | likely_benign | 0.3109 | benign | -0.991 | Destabilizing | 0.103 | N | 0.257 | neutral | None | None | None | None | N |
| Q/C | 0.6337 | likely_pathogenic | 0.6746 | pathogenic | -0.345 | Destabilizing | 0.991 | D | 0.512 | neutral | None | None | None | None | N |
| Q/D | 0.5456 | ambiguous | 0.5506 | ambiguous | -0.765 | Destabilizing | 0.209 | N | 0.271 | neutral | None | None | None | None | N |
| Q/E | 0.088 | likely_benign | 0.0939 | benign | -0.595 | Destabilizing | None | N | 0.14 | neutral | N | 0.331751888 | None | None | N |
| Q/F | 0.6893 | likely_pathogenic | 0.731 | pathogenic | -0.59 | Destabilizing | 0.901 | D | 0.573 | neutral | None | None | None | None | N |
| Q/G | 0.4867 | ambiguous | 0.5098 | ambiguous | -1.39 | Destabilizing | 0.345 | N | 0.452 | neutral | None | None | None | None | N |
| Q/H | 0.2404 | likely_benign | 0.2378 | benign | -1.051 | Destabilizing | 0.003 | N | 0.199 | neutral | N | 0.496349782 | None | None | N |
| Q/I | 0.2849 | likely_benign | 0.2991 | benign | 0.062 | Stabilizing | 0.209 | N | 0.457 | neutral | None | None | None | None | N |
| Q/K | 0.1062 | likely_benign | 0.0962 | benign | -0.295 | Destabilizing | 0.166 | N | 0.269 | neutral | N | 0.430046599 | None | None | N |
| Q/L | 0.1786 | likely_benign | 0.1894 | benign | 0.062 | Stabilizing | 0.166 | N | 0.394 | neutral | N | 0.503273754 | None | None | N |
| Q/M | 0.3341 | likely_benign | 0.3649 | ambiguous | 0.44 | Stabilizing | 0.901 | D | 0.489 | neutral | None | None | None | None | N |
| Q/N | 0.375 | ambiguous | 0.3772 | ambiguous | -0.994 | Destabilizing | 0.345 | N | 0.408 | neutral | None | None | None | None | N |
| Q/P | 0.9318 | likely_pathogenic | 0.9237 | pathogenic | -0.259 | Destabilizing | 0.662 | D | 0.514 | neutral | N | 0.514316976 | None | None | N |
| Q/R | 0.1187 | likely_benign | 0.1154 | benign | -0.312 | Destabilizing | 0.285 | N | 0.422 | neutral | N | 0.466653008 | None | None | N |
| Q/S | 0.2964 | likely_benign | 0.34 | benign | -1.235 | Destabilizing | 0.345 | N | 0.337 | neutral | None | None | None | None | N |
| Q/T | 0.1863 | likely_benign | 0.1983 | benign | -0.852 | Destabilizing | 0.345 | N | 0.391 | neutral | None | None | None | None | N |
| Q/V | 0.1746 | likely_benign | 0.2003 | benign | -0.259 | Destabilizing | 0.001 | N | 0.354 | neutral | None | None | None | None | N |
| Q/W | 0.6024 | likely_pathogenic | 0.6058 | pathogenic | -0.405 | Destabilizing | 0.991 | D | 0.527 | neutral | None | None | None | None | N |
| Q/Y | 0.4937 | ambiguous | 0.5191 | ambiguous | -0.152 | Destabilizing | 0.39 | N | 0.525 | 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.