Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22121 | 66586;66587;66588 | chr2:178582008;178582007;178582006 | chr2:179446735;179446734;179446733 |
| N2AB | 20480 | 61663;61664;61665 | chr2:178582008;178582007;178582006 | chr2:179446735;179446734;179446733 |
| N2A | 19553 | 58882;58883;58884 | chr2:178582008;178582007;178582006 | chr2:179446735;179446734;179446733 |
| N2B | 13056 | 39391;39392;39393 | chr2:178582008;178582007;178582006 | chr2:179446735;179446734;179446733 |
| Novex-1 | 13181 | 39766;39767;39768 | chr2:178582008;178582007;178582006 | chr2:179446735;179446734;179446733 |
| Novex-2 | 13248 | 39967;39968;39969 | chr2:178582008;178582007;178582006 | chr2:179446735;179446734;179446733 |
| 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/P | rs1369743485  |
-0.145 | 0.001 | N | 0.158 | 0.211 | 0.221734844693 | 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/R | rs1369743485 |
None | 0.662 | N | 0.227 | 0.128 | 0.183819452728 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65782E-04 |
| Q/R | rs1369743485 |
None | 0.662 | N | 0.227 | 0.128 | 0.183819452728 | gnomAD-4.0.0 | 1.59219E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02572E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.1724 | likely_benign | 0.1942 | benign | -0.342 | Destabilizing | 0.345 | N | 0.337 | neutral | None | None | None | None | N |
| Q/C | 0.6445 | likely_pathogenic | 0.7061 | pathogenic | -0.02 | Destabilizing | 0.991 | D | 0.295 | neutral | None | None | None | None | N |
| Q/D | 0.4969 | ambiguous | 0.5895 | pathogenic | 0.205 | Stabilizing | 0.722 | D | 0.209 | neutral | None | None | None | None | N |
| Q/E | 0.1161 | likely_benign | 0.1313 | benign | 0.211 | Stabilizing | 0.285 | N | 0.299 | neutral | N | 0.421701616 | None | None | N |
| Q/F | 0.6525 | likely_pathogenic | 0.7004 | pathogenic | -0.505 | Destabilizing | 0.818 | D | 0.319 | neutral | None | None | None | None | N |
| Q/G | 0.3146 | likely_benign | 0.3683 | ambiguous | -0.547 | Destabilizing | 0.561 | D | 0.363 | neutral | None | None | None | None | N |
| Q/H | 0.2434 | likely_benign | 0.2913 | benign | -0.248 | Destabilizing | 0.954 | D | 0.317 | neutral | N | 0.464609818 | None | None | N |
| Q/I | 0.2626 | likely_benign | 0.2955 | benign | 0.116 | Stabilizing | 0.39 | N | 0.356 | neutral | None | None | None | None | N |
| Q/K | 0.1114 | likely_benign | 0.1499 | benign | 0.11 | Stabilizing | 0.285 | N | 0.274 | neutral | N | 0.387223683 | None | None | N |
| Q/L | 0.1026 | likely_benign | 0.12 | benign | 0.116 | Stabilizing | 0.001 | N | 0.163 | neutral | N | 0.420029535 | None | None | N |
| Q/M | 0.2531 | likely_benign | 0.2746 | benign | 0.206 | Stabilizing | 0.818 | D | 0.285 | neutral | None | None | None | None | N |
| Q/N | 0.2961 | likely_benign | 0.3547 | ambiguous | -0.395 | Destabilizing | 0.722 | D | 0.202 | neutral | None | None | None | None | N |
| Q/P | 0.2309 | likely_benign | 0.2603 | benign | -0.008 | Destabilizing | 0.001 | N | 0.158 | neutral | N | 0.487235962 | None | None | N |
| Q/R | 0.1379 | likely_benign | 0.168 | benign | 0.273 | Stabilizing | 0.662 | D | 0.227 | neutral | N | 0.42753151 | None | None | N |
| Q/S | 0.2089 | likely_benign | 0.2282 | benign | -0.41 | Destabilizing | 0.209 | N | 0.274 | neutral | None | None | None | None | N |
| Q/T | 0.1431 | likely_benign | 0.1588 | benign | -0.231 | Destabilizing | 0.007 | N | 0.17 | neutral | None | None | None | None | N |
| Q/V | 0.1674 | likely_benign | 0.191 | benign | -0.008 | Destabilizing | 0.209 | N | 0.362 | neutral | None | None | None | None | N |
| Q/W | 0.6165 | likely_pathogenic | 0.681 | pathogenic | -0.461 | Destabilizing | 0.991 | D | 0.299 | neutral | None | None | None | None | N |
| Q/Y | 0.5002 | ambiguous | 0.5464 | ambiguous | -0.196 | Destabilizing | 0.965 | D | 0.311 | 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.