Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32529 | 97810;97811;97812 | chr2:178541492;178541491;178541490 | chr2:179406219;179406218;179406217 |
| N2AB | 30888 | 92887;92888;92889 | chr2:178541492;178541491;178541490 | chr2:179406219;179406218;179406217 |
| N2A | 29961 | 90106;90107;90108 | chr2:178541492;178541491;178541490 | chr2:179406219;179406218;179406217 |
| N2B | 23464 | 70615;70616;70617 | chr2:178541492;178541491;178541490 | chr2:179406219;179406218;179406217 |
| Novex-1 | 23589 | 70990;70991;70992 | chr2:178541492;178541491;178541490 | chr2:179406219;179406218;179406217 |
| Novex-2 | 23656 | 71191;71192;71193 | chr2:178541492;178541491;178541490 | chr2:179406219;179406218;179406217 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/Y | rs1060500480  |
-0.909 | 0.82 | D | 0.693 | 0.403 | 0.602055327248 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 1.14784E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/Y | rs1060500480 |
-0.909 | 0.82 | D | 0.693 | 0.403 | 0.602055327248 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/Y | rs1060500480 |
-0.909 | 0.82 | D | 0.693 | 0.403 | 0.602055327248 | gnomAD-4.0.0 | 6.57549E-06 | None | None | None | None | I | None | 2.41546E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.111 | likely_benign | 0.1155 | benign | -0.431 | Destabilizing | 0.008 | N | 0.377 | neutral | D | 0.524060767 | None | None | I |
| S/C | 0.09 | likely_benign | 0.0883 | benign | -0.234 | Destabilizing | 0.986 | D | 0.637 | neutral | N | 0.486527433 | None | None | I |
| S/D | 0.6354 | likely_pathogenic | 0.6627 | pathogenic | -0.483 | Destabilizing | 0.961 | D | 0.669 | neutral | None | None | None | None | I |
| S/E | 0.6772 | likely_pathogenic | 0.7247 | pathogenic | -0.574 | Destabilizing | 0.775 | D | 0.671 | neutral | None | None | None | None | I |
| S/F | 0.2376 | likely_benign | 0.2627 | benign | -1.046 | Destabilizing | 0.018 | N | 0.532 | neutral | N | 0.52141927 | None | None | I |
| S/G | 0.1522 | likely_benign | 0.1485 | benign | -0.55 | Destabilizing | 0.633 | D | 0.612 | neutral | None | None | None | None | I |
| S/H | 0.4115 | ambiguous | 0.465 | ambiguous | -1.179 | Destabilizing | 0.996 | D | 0.629 | neutral | None | None | None | None | I |
| S/I | 0.2846 | likely_benign | 0.3059 | benign | -0.239 | Destabilizing | 0.858 | D | 0.673 | neutral | None | None | None | None | I |
| S/K | 0.7826 | likely_pathogenic | 0.8352 | pathogenic | -0.594 | Destabilizing | 0.775 | D | 0.672 | neutral | None | None | None | None | I |
| S/L | 0.1059 | likely_benign | 0.127 | benign | -0.239 | Destabilizing | 0.633 | D | 0.629 | neutral | None | None | None | None | I |
| S/M | 0.2232 | likely_benign | 0.2373 | benign | 0.268 | Stabilizing | 0.989 | D | 0.629 | neutral | None | None | None | None | I |
| S/N | 0.2221 | likely_benign | 0.2451 | benign | -0.375 | Destabilizing | 0.961 | D | 0.684 | prob.neutral | None | None | None | None | I |
| S/P | 0.9143 | likely_pathogenic | 0.931 | pathogenic | -0.275 | Destabilizing | 0.949 | D | 0.648 | neutral | N | 0.512771989 | None | None | I |
| S/Q | 0.5429 | ambiguous | 0.6019 | pathogenic | -0.726 | Destabilizing | 0.961 | D | 0.652 | neutral | None | None | None | None | I |
| S/R | 0.717 | likely_pathogenic | 0.7791 | pathogenic | -0.316 | Destabilizing | 0.923 | D | 0.652 | neutral | None | None | None | None | I |
| S/T | 0.1273 | likely_benign | 0.1262 | benign | -0.417 | Destabilizing | 0.722 | D | 0.655 | neutral | N | 0.484348159 | None | None | I |
| S/V | 0.2589 | likely_benign | 0.2691 | benign | -0.275 | Destabilizing | 0.633 | D | 0.668 | neutral | None | None | None | None | I |
| S/W | 0.4101 | ambiguous | 0.4404 | ambiguous | -1.041 | Destabilizing | 0.996 | D | 0.732 | prob.delet. | None | None | None | None | I |
| S/Y | 0.2267 | likely_benign | 0.2579 | benign | -0.762 | Destabilizing | 0.82 | D | 0.693 | prob.neutral | D | 0.527749146 | 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.