Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14545 | 43858;43859;43860 | chr2:178632261;178632260;178632259 | chr2:179496988;179496987;179496986 |
| N2AB | 12904 | 38935;38936;38937 | chr2:178632261;178632260;178632259 | chr2:179496988;179496987;179496986 |
| N2A | 11977 | 36154;36155;36156 | chr2:178632261;178632260;178632259 | chr2:179496988;179496987;179496986 |
| N2B | 5480 | 16663;16664;16665 | chr2:178632261;178632260;178632259 | chr2:179496988;179496987;179496986 |
| Novex-1 | 5605 | 17038;17039;17040 | chr2:178632261;178632260;178632259 | chr2:179496988;179496987;179496986 |
| Novex-2 | 5672 | 17239;17240;17241 | chr2:178632261;178632260;178632259 | chr2:179496988;179496987;179496986 |
| 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/L | rs2059898049  |
None | 0.001 | N | 0.288 | 0.213 | 0.38225645794 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.14422E-04 | 0 |
| Q/L | rs2059898049 |
None | 0.001 | N | 0.288 | 0.213 | 0.38225645794 | gnomAD-4.0.0 | 5.15213E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 5.42094E-05 | 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 | 0.1163 | likely_benign | 0.127 | benign | -0.262 | Destabilizing | 0.001 | N | 0.173 | neutral | None | None | None | None | N |
| Q/C | 0.415 | ambiguous | 0.3742 | ambiguous | 0.326 | Stabilizing | 0.316 | N | 0.446 | neutral | None | None | None | None | N |
| Q/D | 0.1001 | likely_benign | 0.1223 | benign | -0.178 | Destabilizing | None | N | 0.091 | neutral | None | None | None | None | N |
| Q/E | 0.0582 | likely_benign | 0.0596 | benign | -0.215 | Destabilizing | 0.001 | N | 0.136 | neutral | N | 0.44200905 | None | None | N |
| Q/F | 0.4194 | ambiguous | 0.3915 | ambiguous | -0.534 | Destabilizing | 0.021 | N | 0.563 | neutral | None | None | None | None | N |
| Q/G | 0.1527 | likely_benign | 0.1585 | benign | -0.445 | Destabilizing | 0.002 | N | 0.289 | neutral | None | None | None | None | N |
| Q/H | 0.0928 | likely_benign | 0.0852 | benign | -0.551 | Destabilizing | None | N | 0.093 | neutral | N | 0.382977159 | None | None | N |
| Q/I | 0.2091 | likely_benign | 0.2136 | benign | 0.132 | Stabilizing | 0.009 | N | 0.457 | neutral | None | None | None | None | N |
| Q/K | 0.0667 | likely_benign | 0.0615 | benign | 0.156 | Stabilizing | None | N | 0.1 | neutral | N | 0.437726787 | None | None | N |
| Q/L | 0.1026 | likely_benign | 0.0981 | benign | 0.132 | Stabilizing | 0.001 | N | 0.288 | neutral | N | 0.498267087 | None | None | N |
| Q/M | 0.2543 | likely_benign | 0.2585 | benign | 0.624 | Stabilizing | 0.316 | N | 0.279 | neutral | None | None | None | None | N |
| Q/N | 0.109 | likely_benign | 0.1124 | benign | -0.117 | Destabilizing | 0.002 | N | 0.159 | neutral | None | None | None | None | N |
| Q/P | 0.3231 | likely_benign | 0.3092 | benign | 0.028 | Stabilizing | 0.013 | N | 0.317 | neutral | N | 0.499948399 | None | None | N |
| Q/R | 0.0779 | likely_benign | 0.0721 | benign | 0.284 | Stabilizing | 0.001 | N | 0.163 | neutral | N | 0.454284187 | None | None | N |
| Q/S | 0.1287 | likely_benign | 0.1341 | benign | -0.125 | Destabilizing | None | N | 0.077 | neutral | None | None | None | None | N |
| Q/T | 0.1069 | likely_benign | 0.1108 | benign | -0.011 | Destabilizing | None | N | 0.102 | neutral | None | None | None | None | N |
| Q/V | 0.1441 | likely_benign | 0.1523 | benign | 0.028 | Stabilizing | 0.002 | N | 0.325 | neutral | None | None | None | None | N |
| Q/W | 0.291 | likely_benign | 0.2742 | benign | -0.489 | Destabilizing | 0.316 | N | 0.397 | neutral | None | None | None | None | N |
| Q/Y | 0.2219 | likely_benign | 0.2044 | benign | -0.221 | Destabilizing | 0.004 | N | 0.423 | 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.