Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6385 | 19378;19379;19380 | chr2:178728773;178728772;178728771 | chr2:179593500;179593499;179593498 |
| N2AB | 6068 | 18427;18428;18429 | chr2:178728773;178728772;178728771 | chr2:179593500;179593499;179593498 |
| N2A | 5141 | 15646;15647;15648 | chr2:178728773;178728772;178728771 | chr2:179593500;179593499;179593498 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs1032273558  |
-1.302 | 0.989 | N | 0.587 | 0.251 | 0.268660756437 | gnomAD-2.1.1 | 4.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9E-06 | 0 |
| A/T | rs1032273558 |
-1.302 | 0.989 | N | 0.587 | 0.251 | 0.268660756437 | gnomAD-4.0.0 | 3.45984E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.54745E-06 | 0 | 0 |
| A/V | rs1560764364 |
None | 0.989 | N | 0.588 | 0.329 | 0.33835085245 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9056 | likely_pathogenic | 0.9086 | pathogenic | -1.393 | Destabilizing | 1.0 | D | 0.648 | neutral | None | None | None | None | N |
| A/D | 0.9952 | likely_pathogenic | 0.9962 | pathogenic | -1.588 | Destabilizing | 0.997 | D | 0.599 | neutral | N | 0.491087249 | None | None | N |
| A/E | 0.9882 | likely_pathogenic | 0.9911 | pathogenic | -1.63 | Destabilizing | 0.998 | D | 0.6 | neutral | None | None | None | None | N |
| A/F | 0.9888 | likely_pathogenic | 0.9878 | pathogenic | -1.279 | Destabilizing | 0.999 | D | 0.664 | neutral | None | None | None | None | N |
| A/G | 0.5903 | likely_pathogenic | 0.5958 | pathogenic | -1.215 | Destabilizing | 0.989 | D | 0.557 | neutral | N | 0.491087249 | None | None | N |
| A/H | 0.9962 | likely_pathogenic | 0.9966 | pathogenic | -1.193 | Destabilizing | 1.0 | D | 0.637 | neutral | None | None | None | None | N |
| A/I | 0.9437 | likely_pathogenic | 0.9314 | pathogenic | -0.586 | Destabilizing | 0.999 | D | 0.659 | neutral | None | None | None | None | N |
| A/K | 0.9973 | likely_pathogenic | 0.9978 | pathogenic | -1.126 | Destabilizing | 0.998 | D | 0.599 | neutral | None | None | None | None | N |
| A/L | 0.8676 | likely_pathogenic | 0.8635 | pathogenic | -0.586 | Destabilizing | 0.992 | D | 0.573 | neutral | None | None | None | None | N |
| A/M | 0.9561 | likely_pathogenic | 0.9539 | pathogenic | -0.635 | Destabilizing | 1.0 | D | 0.633 | neutral | None | None | None | None | N |
| A/N | 0.9912 | likely_pathogenic | 0.9919 | pathogenic | -0.997 | Destabilizing | 0.999 | D | 0.651 | neutral | None | None | None | None | N |
| A/P | 0.4088 | ambiguous | 0.4285 | ambiguous | -0.689 | Destabilizing | 0.054 | N | 0.333 | neutral | N | 0.393588642 | None | None | N |
| A/Q | 0.9857 | likely_pathogenic | 0.9881 | pathogenic | -1.246 | Destabilizing | 0.999 | D | 0.657 | neutral | None | None | None | None | N |
| A/R | 0.9893 | likely_pathogenic | 0.9917 | pathogenic | -0.747 | Destabilizing | 0.999 | D | 0.665 | neutral | None | None | None | None | N |
| A/S | 0.4283 | ambiguous | 0.4261 | ambiguous | -1.337 | Destabilizing | 0.989 | D | 0.559 | neutral | N | 0.473489973 | None | None | N |
| A/T | 0.7946 | likely_pathogenic | 0.7813 | pathogenic | -1.293 | Destabilizing | 0.989 | D | 0.587 | neutral | N | 0.474503931 | None | None | N |
| A/V | 0.7675 | likely_pathogenic | 0.7433 | pathogenic | -0.689 | Destabilizing | 0.989 | D | 0.588 | neutral | N | 0.4752644 | None | None | N |
| A/W | 0.9988 | likely_pathogenic | 0.9989 | pathogenic | -1.502 | Destabilizing | 1.0 | D | 0.653 | neutral | None | None | None | None | N |
| A/Y | 0.9952 | likely_pathogenic | 0.9952 | pathogenic | -1.109 | Destabilizing | 0.999 | D | 0.661 | 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.