Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1004 | 3235;3236;3237 | chr2:178782896;178782895;178782894 | chr2:179647623;179647622;179647621 |
| N2AB | 1004 | 3235;3236;3237 | chr2:178782896;178782895;178782894 | chr2:179647623;179647622;179647621 |
| N2A | 1004 | 3235;3236;3237 | chr2:178782896;178782895;178782894 | chr2:179647623;179647622;179647621 |
| N2B | 958 | 3097;3098;3099 | chr2:178782896;178782895;178782894 | chr2:179647623;179647622;179647621 |
| Novex-1 | 958 | 3097;3098;3099 | chr2:178782896;178782895;178782894 | chr2:179647623;179647622;179647621 |
| Novex-2 | 958 | 3097;3098;3099 | chr2:178782896;178782895;178782894 | chr2:179647623;179647622;179647621 |
| Novex-3 | 1004 | 3235;3236;3237 | chr2:178782896;178782895;178782894 | chr2:179647623;179647622;179647621 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | rs1413214135  |
-0.877 | 0.999 | N | 0.63 | 0.577 | 0.509820907775 | gnomAD-2.1.1 | 7.97E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.77E-05 | 0 |
| E/A | rs1413214135 |
-0.877 | 0.999 | N | 0.63 | 0.577 | 0.509820907775 | gnomAD-4.0.0 | 7.52498E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.89242E-06 | 0 | 0 |
| E/K | rs200902055 |
-0.157 | 1.0 | N | 0.608 | 0.434 | None | gnomAD-2.1.1 | 1.23987E-04 | None | None | None | None | N | None | 8.01E-05 | 6.20943E-04 | None | 0 | 0 | None | 0 | None | 0 | 6.99E-05 | 2.77393E-04 |
| E/K | rs200902055 |
-0.157 | 1.0 | N | 0.608 | 0.434 | None | gnomAD-3.1.2 | 1.3804E-04 | None | None | None | None | N | None | 2.1737E-04 | 3.27225E-04 | 0 | 0 | 0 | None | 0 | 0 | 1.02872E-04 | 0 | 0 |
| E/K | rs200902055 |
-0.157 | 1.0 | N | 0.608 | 0.434 | None | gnomAD-4.0.0 | 6.07216E-05 | None | None | None | None | N | None | 1.46902E-04 | 4.66667E-04 | None | 0 | 2.22856E-05 | None | 0 | 1.6442E-04 | 4.66102E-05 | 0 | 3.20113E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.937 | likely_pathogenic | 0.9673 | pathogenic | -0.764 | Destabilizing | 0.999 | D | 0.63 | neutral | N | 0.503829665 | None | None | N |
| E/C | 0.9979 | likely_pathogenic | 0.9988 | pathogenic | -0.257 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| E/D | 0.8656 | likely_pathogenic | 0.9072 | pathogenic | -0.545 | Destabilizing | 0.999 | D | 0.469 | neutral | N | 0.456174319 | None | None | N |
| E/F | 0.9982 | likely_pathogenic | 0.9991 | pathogenic | -0.385 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| E/G | 0.92 | likely_pathogenic | 0.9481 | pathogenic | -1.025 | Destabilizing | 1.0 | D | 0.651 | neutral | N | 0.486064898 | None | None | N |
| E/H | 0.9883 | likely_pathogenic | 0.9938 | pathogenic | -0.337 | Destabilizing | 1.0 | D | 0.637 | neutral | None | None | None | None | N |
| E/I | 0.9958 | likely_pathogenic | 0.998 | pathogenic | -0.081 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| E/K | 0.9446 | likely_pathogenic | 0.9674 | pathogenic | -0.01 | Destabilizing | 1.0 | D | 0.608 | neutral | N | 0.46790958 | None | None | N |
| E/L | 0.9926 | likely_pathogenic | 0.9959 | pathogenic | -0.081 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | N |
| E/M | 0.9921 | likely_pathogenic | 0.9956 | pathogenic | 0.185 | Stabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | N |
| E/N | 0.9752 | likely_pathogenic | 0.9848 | pathogenic | -0.453 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
| E/P | 0.9987 | likely_pathogenic | 0.999 | pathogenic | -0.289 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | N |
| E/Q | 0.8578 | likely_pathogenic | 0.9145 | pathogenic | -0.381 | Destabilizing | 1.0 | D | 0.614 | neutral | N | 0.466444844 | None | None | N |
| E/R | 0.9564 | likely_pathogenic | 0.9755 | pathogenic | 0.248 | Stabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | N |
| E/S | 0.9521 | likely_pathogenic | 0.972 | pathogenic | -0.655 | Destabilizing | 0.999 | D | 0.645 | neutral | None | None | None | None | N |
| E/T | 0.9784 | likely_pathogenic | 0.9889 | pathogenic | -0.433 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| E/V | 0.9805 | likely_pathogenic | 0.991 | pathogenic | -0.289 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.52055816 | None | None | N |
| E/W | 0.999 | likely_pathogenic | 0.9995 | pathogenic | -0.108 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| E/Y | 0.9941 | likely_pathogenic | 0.997 | pathogenic | -0.119 | Destabilizing | 1.0 | D | 0.685 | 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.