Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18829 | 56710;56711;56712 | chr2:178599308;178599307;178599306 | chr2:179464035;179464034;179464033 |
| N2AB | 17188 | 51787;51788;51789 | chr2:178599308;178599307;178599306 | chr2:179464035;179464034;179464033 |
| N2A | 16261 | 49006;49007;49008 | chr2:178599308;178599307;178599306 | chr2:179464035;179464034;179464033 |
| N2B | 9764 | 29515;29516;29517 | chr2:178599308;178599307;178599306 | chr2:179464035;179464034;179464033 |
| Novex-1 | 9889 | 29890;29891;29892 | chr2:178599308;178599307;178599306 | chr2:179464035;179464034;179464033 |
| Novex-2 | 9956 | 30091;30092;30093 | chr2:178599308;178599307;178599306 | chr2:179464035;179464034;179464033 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | None | None | 0.822 | N | 0.348 | 0.249 | 0.393159880135 | gnomAD-4.0.0 | 6.85993E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.17195E-05 | 0 |
| R/K | rs1056753359  |
None | 0.656 | N | 0.393 | 0.176 | 0.290590437066 | gnomAD-4.0.0 | 1.60175E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78645E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9081 | likely_pathogenic | 0.9057 | pathogenic | -0.351 | Destabilizing | 0.754 | D | 0.435 | neutral | None | None | None | None | N |
| R/C | 0.5354 | ambiguous | 0.524 | ambiguous | -0.285 | Destabilizing | 0.998 | D | 0.559 | neutral | None | None | None | None | N |
| R/D | 0.9654 | likely_pathogenic | 0.9613 | pathogenic | -0.03 | Destabilizing | 0.956 | D | 0.409 | neutral | None | None | None | None | N |
| R/E | 0.8462 | likely_pathogenic | 0.8266 | pathogenic | 0.046 | Stabilizing | 0.86 | D | 0.345 | neutral | None | None | None | None | N |
| R/F | 0.9476 | likely_pathogenic | 0.9381 | pathogenic | -0.458 | Destabilizing | 0.978 | D | 0.525 | neutral | None | None | None | None | N |
| R/G | 0.7571 | likely_pathogenic | 0.7613 | pathogenic | -0.592 | Destabilizing | 0.822 | D | 0.348 | neutral | N | 0.489521332 | None | None | N |
| R/H | 0.2988 | likely_benign | 0.2951 | benign | -1.001 | Destabilizing | 0.998 | D | 0.344 | neutral | None | None | None | None | N |
| R/I | 0.8632 | likely_pathogenic | 0.8343 | pathogenic | 0.267 | Stabilizing | 0.915 | D | 0.521 | neutral | None | None | None | None | N |
| R/K | 0.2553 | likely_benign | 0.2713 | benign | -0.372 | Destabilizing | 0.656 | D | 0.393 | neutral | N | 0.486886458 | None | None | N |
| R/L | 0.7548 | likely_pathogenic | 0.7415 | pathogenic | 0.267 | Stabilizing | 0.754 | D | 0.379 | neutral | None | None | None | None | N |
| R/M | 0.8115 | likely_pathogenic | 0.8033 | pathogenic | -0.001 | Destabilizing | 0.992 | D | 0.369 | neutral | N | 0.487675841 | None | None | N |
| R/N | 0.9377 | likely_pathogenic | 0.9344 | pathogenic | 0.116 | Stabilizing | 0.956 | D | 0.334 | neutral | None | None | None | None | N |
| R/P | 0.9768 | likely_pathogenic | 0.9742 | pathogenic | 0.082 | Stabilizing | 0.978 | D | 0.451 | neutral | None | None | None | None | N |
| R/Q | 0.2954 | likely_benign | 0.2887 | benign | -0.092 | Destabilizing | 0.978 | D | 0.371 | neutral | None | None | None | None | N |
| R/S | 0.925 | likely_pathogenic | 0.9287 | pathogenic | -0.458 | Destabilizing | 0.698 | D | 0.399 | neutral | N | 0.456024834 | None | None | N |
| R/T | 0.8332 | likely_pathogenic | 0.8293 | pathogenic | -0.232 | Destabilizing | 0.014 | N | 0.333 | neutral | N | 0.44180753 | None | None | N |
| R/V | 0.8879 | likely_pathogenic | 0.8722 | pathogenic | 0.082 | Stabilizing | 0.915 | D | 0.461 | neutral | None | None | None | None | N |
| R/W | 0.5336 | ambiguous | 0.5129 | ambiguous | -0.315 | Destabilizing | 0.997 | D | 0.631 | neutral | N | 0.483320974 | None | None | N |
| R/Y | 0.8529 | likely_pathogenic | 0.8358 | pathogenic | 0.045 | Stabilizing | 0.993 | D | 0.442 | 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.