Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32546 | 97861;97862;97863 | chr2:178541441;178541440;178541439 | chr2:179406168;179406167;179406166 |
| N2AB | 30905 | 92938;92939;92940 | chr2:178541441;178541440;178541439 | chr2:179406168;179406167;179406166 |
| N2A | 29978 | 90157;90158;90159 | chr2:178541441;178541440;178541439 | chr2:179406168;179406167;179406166 |
| N2B | 23481 | 70666;70667;70668 | chr2:178541441;178541440;178541439 | chr2:179406168;179406167;179406166 |
| Novex-1 | 23606 | 71041;71042;71043 | chr2:178541441;178541440;178541439 | chr2:179406168;179406167;179406166 |
| Novex-2 | 23673 | 71242;71243;71244 | chr2:178541441;178541440;178541439 | chr2:179406168;179406167;179406166 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | None | None | 1.0 | D | 0.679 | 0.666 | 0.511677802314 | gnomAD-4.0.0 | 7.20195E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.87501E-06 | 0 | 0 |
| W/R | rs751074577  |
-0.847 | 1.0 | D | 0.722 | 0.624 | 0.813203454484 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| W/R | rs751074577 |
-0.847 | 1.0 | D | 0.722 | 0.624 | 0.813203454484 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| W/R | rs751074577 |
-0.847 | 1.0 | D | 0.722 | 0.624 | 0.813203454484 | gnomAD-4.0.0 | 2.56316E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78803E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9864 | likely_pathogenic | 0.9868 | pathogenic | -3.195 | Highly Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| W/C | 0.995 | likely_pathogenic | 0.9954 | pathogenic | -1.347 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | D | 0.54714362 | None | None | N |
| W/D | 0.9967 | likely_pathogenic | 0.9971 | pathogenic | -2.307 | Highly Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| W/E | 0.9976 | likely_pathogenic | 0.9978 | pathogenic | -2.25 | Highly Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| W/F | 0.7273 | likely_pathogenic | 0.6779 | pathogenic | -2.038 | Highly Destabilizing | 1.0 | D | 0.582 | neutral | None | None | None | None | N |
| W/G | 0.9671 | likely_pathogenic | 0.9728 | pathogenic | -3.379 | Highly Destabilizing | 1.0 | D | 0.629 | neutral | D | 0.523252467 | None | None | N |
| W/H | 0.99 | likely_pathogenic | 0.9899 | pathogenic | -1.753 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| W/I | 0.9832 | likely_pathogenic | 0.9853 | pathogenic | -2.507 | Highly Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| W/K | 0.9988 | likely_pathogenic | 0.9989 | pathogenic | -1.771 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| W/L | 0.9565 | likely_pathogenic | 0.9599 | pathogenic | -2.507 | Highly Destabilizing | 1.0 | D | 0.629 | neutral | N | 0.511135693 | None | None | N |
| W/M | 0.9886 | likely_pathogenic | 0.9882 | pathogenic | -1.837 | Destabilizing | 1.0 | D | 0.666 | neutral | None | None | None | None | N |
| W/N | 0.9957 | likely_pathogenic | 0.9962 | pathogenic | -2.109 | Highly Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| W/P | 0.9883 | likely_pathogenic | 0.9886 | pathogenic | -2.755 | Highly Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| W/Q | 0.9987 | likely_pathogenic | 0.9988 | pathogenic | -2.163 | Highly Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| W/R | 0.9975 | likely_pathogenic | 0.9977 | pathogenic | -1.101 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | D | 0.523759447 | None | None | N |
| W/S | 0.9812 | likely_pathogenic | 0.9834 | pathogenic | -2.454 | Highly Destabilizing | 1.0 | D | 0.72 | prob.delet. | N | 0.512514819 | None | None | N |
| W/T | 0.9877 | likely_pathogenic | 0.9878 | pathogenic | -2.35 | Highly Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| W/V | 0.983 | likely_pathogenic | 0.9836 | pathogenic | -2.755 | Highly Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| W/Y | 0.8676 | likely_pathogenic | 0.8571 | pathogenic | -1.888 | Destabilizing | 1.0 | D | 0.546 | 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.