Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32658 | 98197;98198;98199 | chr2:178540194;178540193;178540192 | chr2:179404921;179404920;179404919 |
| N2AB | 31017 | 93274;93275;93276 | chr2:178540194;178540193;178540192 | chr2:179404921;179404920;179404919 |
| N2A | 30090 | 90493;90494;90495 | chr2:178540194;178540193;178540192 | chr2:179404921;179404920;179404919 |
| N2B | 23593 | 71002;71003;71004 | chr2:178540194;178540193;178540192 | chr2:179404921;179404920;179404919 |
| Novex-1 | 23718 | 71377;71378;71379 | chr2:178540194;178540193;178540192 | chr2:179404921;179404920;179404919 |
| Novex-2 | 23785 | 71578;71579;71580 | chr2:178540194;178540193;178540192 | chr2:179404921;179404920;179404919 |
| 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 | 0.954 | N | 0.493 | 0.348 | 0.46614307118 | gnomAD-4.0.0 | 6.84191E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99467E-07 | 0 | 0 |
| R/Q | rs769581585  |
-0.455 | 0.998 | N | 0.561 | 0.35 | 0.159798565429 | gnomAD-2.1.1 | 4.02E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.33816E-04 | None | 9.8E-05 | None | 0 | 8.87E-06 | 0 |
| R/Q | rs769581585 |
-0.455 | 0.998 | N | 0.561 | 0.35 | 0.159798565429 | gnomAD-4.0.0 | 1.36839E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.25945E-04 | None | 0 | 0 | 1.79894E-06 | 1.50711E-04 | 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 | 0.4828 | ambiguous | 0.4107 | ambiguous | -1.026 | Destabilizing | 0.525 | D | 0.418 | neutral | None | None | None | None | N |
| R/C | 0.1482 | likely_benign | 0.1361 | benign | -1.18 | Destabilizing | 0.007 | N | 0.447 | neutral | None | None | None | None | N |
| R/D | 0.7967 | likely_pathogenic | 0.7382 | pathogenic | -0.702 | Destabilizing | 0.991 | D | 0.57 | neutral | None | None | None | None | N |
| R/E | 0.5212 | ambiguous | 0.4615 | ambiguous | -0.513 | Destabilizing | 0.971 | D | 0.485 | neutral | None | None | None | None | N |
| R/F | 0.7007 | likely_pathogenic | 0.6408 | pathogenic | -0.603 | Destabilizing | 0.991 | D | 0.56 | neutral | None | None | None | None | N |
| R/G | 0.3285 | likely_benign | 0.2933 | benign | -1.347 | Destabilizing | 0.954 | D | 0.493 | neutral | N | 0.503893351 | None | None | N |
| R/H | 0.1503 | likely_benign | 0.1435 | benign | -1.522 | Destabilizing | 0.991 | D | 0.537 | neutral | None | None | None | None | N |
| R/I | 0.5576 | ambiguous | 0.4764 | ambiguous | -0.135 | Destabilizing | 0.949 | D | 0.55 | neutral | None | None | None | None | N |
| R/K | 0.136 | likely_benign | 0.1439 | benign | -0.767 | Destabilizing | 0.932 | D | 0.481 | neutral | None | None | None | None | N |
| R/L | 0.2967 | likely_benign | 0.2545 | benign | -0.135 | Destabilizing | 0.837 | D | 0.471 | neutral | N | 0.407017378 | None | None | N |
| R/M | 0.4138 | ambiguous | 0.3692 | ambiguous | -0.755 | Destabilizing | 0.991 | D | 0.552 | neutral | None | None | None | None | N |
| R/N | 0.5794 | likely_pathogenic | 0.5039 | ambiguous | -0.954 | Destabilizing | 0.991 | D | 0.521 | neutral | None | None | None | None | N |
| R/P | 0.5434 | ambiguous | 0.4671 | ambiguous | -0.416 | Destabilizing | 0.996 | D | 0.582 | neutral | N | 0.425240567 | None | None | N |
| R/Q | 0.1334 | likely_benign | 0.125 | benign | -0.854 | Destabilizing | 0.998 | D | 0.561 | neutral | N | 0.446077199 | None | None | N |
| R/S | 0.5689 | likely_pathogenic | 0.5021 | ambiguous | -1.535 | Destabilizing | 0.842 | D | 0.465 | neutral | None | None | None | None | N |
| R/T | 0.2353 | likely_benign | 0.2092 | benign | -1.142 | Destabilizing | 0.842 | D | 0.459 | neutral | None | None | None | None | N |
| R/V | 0.5403 | ambiguous | 0.4671 | ambiguous | -0.416 | Destabilizing | 0.842 | D | 0.5 | neutral | None | None | None | None | N |
| R/W | 0.3239 | likely_benign | 0.3014 | benign | -0.358 | Destabilizing | 0.998 | D | 0.563 | neutral | None | None | None | None | N |
| R/Y | 0.4981 | ambiguous | 0.4472 | ambiguous | -0.139 | Destabilizing | 0.991 | D | 0.573 | 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.