Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17874 | 53845;53846;53847 | chr2:178605675;178605674;178605673 | chr2:179470402;179470401;179470400 |
| N2AB | 16233 | 48922;48923;48924 | chr2:178605675;178605674;178605673 | chr2:179470402;179470401;179470400 |
| N2A | 15306 | 46141;46142;46143 | chr2:178605675;178605674;178605673 | chr2:179470402;179470401;179470400 |
| N2B | 8809 | 26650;26651;26652 | chr2:178605675;178605674;178605673 | chr2:179470402;179470401;179470400 |
| Novex-1 | 8934 | 27025;27026;27027 | chr2:178605675;178605674;178605673 | chr2:179470402;179470401;179470400 |
| Novex-2 | 9001 | 27226;27227;27228 | chr2:178605675;178605674;178605673 | chr2:179470402;179470401;179470400 |
| 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/T | None | None | 0.998 | N | 0.616 | 0.417 | 0.510758216515 | gnomAD-4.0.0 | 1.62079E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.46791E-05 | 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 | 0.9874 | likely_pathogenic | 0.9836 | pathogenic | -1.777 | Destabilizing | 0.992 | D | 0.555 | neutral | None | None | None | None | N |
| R/C | 0.8804 | likely_pathogenic | 0.8516 | pathogenic | -1.929 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| R/D | 0.9965 | likely_pathogenic | 0.9956 | pathogenic | -0.932 | Destabilizing | 0.999 | D | 0.641 | neutral | None | None | None | None | N |
| R/E | 0.9693 | likely_pathogenic | 0.9658 | pathogenic | -0.734 | Destabilizing | 0.992 | D | 0.495 | neutral | None | None | None | None | N |
| R/F | 0.9949 | likely_pathogenic | 0.9942 | pathogenic | -1.314 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | None | N |
| R/G | 0.9828 | likely_pathogenic | 0.9759 | pathogenic | -2.135 | Highly Destabilizing | 0.994 | D | 0.557 | neutral | N | 0.516884078 | None | None | N |
| R/H | 0.8676 | likely_pathogenic | 0.8333 | pathogenic | -2.088 | Highly Destabilizing | 1.0 | D | 0.55 | neutral | None | None | None | None | N |
| R/I | 0.931 | likely_pathogenic | 0.9328 | pathogenic | -0.76 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | N |
| R/K | 0.6681 | likely_pathogenic | 0.653 | pathogenic | -1.468 | Destabilizing | 0.543 | D | 0.182 | neutral | N | 0.457027698 | None | None | N |
| R/L | 0.959 | likely_pathogenic | 0.9526 | pathogenic | -0.76 | Destabilizing | 0.996 | D | 0.557 | neutral | None | None | None | None | N |
| R/M | 0.9751 | likely_pathogenic | 0.9719 | pathogenic | -1.153 | Destabilizing | 1.0 | D | 0.601 | neutral | N | 0.467672255 | None | None | N |
| R/N | 0.9909 | likely_pathogenic | 0.9886 | pathogenic | -1.365 | Destabilizing | 0.999 | D | 0.549 | neutral | None | None | None | None | N |
| R/P | 0.9962 | likely_pathogenic | 0.9956 | pathogenic | -1.084 | Destabilizing | 1.0 | D | 0.675 | neutral | None | None | None | None | N |
| R/Q | 0.8188 | likely_pathogenic | 0.7978 | pathogenic | -1.333 | Destabilizing | 0.998 | D | 0.551 | neutral | None | None | None | None | N |
| R/S | 0.9945 | likely_pathogenic | 0.9921 | pathogenic | -2.272 | Highly Destabilizing | 0.989 | D | 0.598 | neutral | N | 0.473901305 | None | None | N |
| R/T | 0.9758 | likely_pathogenic | 0.9697 | pathogenic | -1.851 | Destabilizing | 0.998 | D | 0.616 | neutral | N | 0.454083394 | None | None | N |
| R/V | 0.9405 | likely_pathogenic | 0.9368 | pathogenic | -1.084 | Destabilizing | 0.999 | D | 0.688 | prob.neutral | None | None | None | None | N |
| R/W | 0.9565 | likely_pathogenic | 0.9475 | pathogenic | -0.839 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | D | 0.522079254 | None | None | N |
| R/Y | 0.9814 | likely_pathogenic | 0.9759 | pathogenic | -0.614 | Destabilizing | 1.0 | D | 0.676 | prob.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.