Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25876 | 77851;77852;77853 | chr2:178568506;178568505;178568504 | chr2:179433233;179433232;179433231 |
| N2AB | 24235 | 72928;72929;72930 | chr2:178568506;178568505;178568504 | chr2:179433233;179433232;179433231 |
| N2A | 23308 | 70147;70148;70149 | chr2:178568506;178568505;178568504 | chr2:179433233;179433232;179433231 |
| N2B | 16811 | 50656;50657;50658 | chr2:178568506;178568505;178568504 | chr2:179433233;179433232;179433231 |
| Novex-1 | 16936 | 51031;51032;51033 | chr2:178568506;178568505;178568504 | chr2:179433233;179433232;179433231 |
| Novex-2 | 17003 | 51232;51233;51234 | chr2:178568506;178568505;178568504 | chr2:179433233;179433232;179433231 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | 0.051 | N | 0.257 | 0.167 | 0.425970041486 | gnomAD-4.0.0 | 4.8013E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.93751E-06 | 6.07533E-05 | 0 |
| V/I | rs1439203957  |
None | 0.454 | N | 0.414 | 0.146 | 0.439975540334 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.107 | likely_benign | 0.0966 | benign | -0.36 | Destabilizing | 0.051 | N | 0.257 | neutral | N | 0.418021885 | None | None | I |
| V/C | 0.6574 | likely_pathogenic | 0.6694 | pathogenic | -0.792 | Destabilizing | 0.998 | D | 0.511 | neutral | None | None | None | None | I |
| V/D | 0.6485 | likely_pathogenic | 0.6446 | pathogenic | -0.376 | Destabilizing | 0.966 | D | 0.587 | neutral | N | 0.503991757 | None | None | I |
| V/E | 0.5566 | ambiguous | 0.5492 | ambiguous | -0.49 | Destabilizing | 0.974 | D | 0.565 | neutral | None | None | None | None | I |
| V/F | 0.1652 | likely_benign | 0.1627 | benign | -0.696 | Destabilizing | 0.934 | D | 0.492 | neutral | N | 0.486921823 | None | None | I |
| V/G | 0.2754 | likely_benign | 0.2639 | benign | -0.432 | Destabilizing | 0.801 | D | 0.555 | neutral | N | 0.484277659 | None | None | I |
| V/H | 0.6081 | likely_pathogenic | 0.6183 | pathogenic | 0.019 | Stabilizing | 0.998 | D | 0.594 | neutral | None | None | None | None | I |
| V/I | 0.0873 | likely_benign | 0.0823 | benign | -0.314 | Destabilizing | 0.454 | N | 0.414 | neutral | N | 0.508105171 | None | None | I |
| V/K | 0.556 | ambiguous | 0.5473 | ambiguous | -0.423 | Destabilizing | 0.974 | D | 0.55 | neutral | None | None | None | None | I |
| V/L | 0.2082 | likely_benign | 0.1786 | benign | -0.314 | Destabilizing | 0.002 | N | 0.253 | neutral | N | 0.464679681 | None | None | I |
| V/M | 0.1594 | likely_benign | 0.1498 | benign | -0.565 | Destabilizing | 0.949 | D | 0.445 | neutral | None | None | None | None | I |
| V/N | 0.3952 | ambiguous | 0.3822 | ambiguous | -0.23 | Destabilizing | 0.991 | D | 0.581 | neutral | None | None | None | None | I |
| V/P | 0.8077 | likely_pathogenic | 0.7935 | pathogenic | -0.3 | Destabilizing | 0.974 | D | 0.588 | neutral | None | None | None | None | I |
| V/Q | 0.4541 | ambiguous | 0.4564 | ambiguous | -0.445 | Destabilizing | 0.991 | D | 0.583 | neutral | None | None | None | None | I |
| V/R | 0.4413 | ambiguous | 0.4457 | ambiguous | 0.053 | Stabilizing | 0.974 | D | 0.587 | neutral | None | None | None | None | I |
| V/S | 0.1939 | likely_benign | 0.1833 | benign | -0.542 | Destabilizing | 0.728 | D | 0.573 | neutral | None | None | None | None | I |
| V/T | 0.1511 | likely_benign | 0.1364 | benign | -0.562 | Destabilizing | 0.842 | D | 0.395 | neutral | None | None | None | None | I |
| V/W | 0.8104 | likely_pathogenic | 0.8099 | pathogenic | -0.755 | Destabilizing | 0.998 | D | 0.623 | neutral | None | None | None | None | I |
| V/Y | 0.6028 | likely_pathogenic | 0.6035 | pathogenic | -0.48 | Destabilizing | 0.991 | D | 0.496 | neutral | None | None | None | None | I |
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.