Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3305 | 10138;10139;10140 | chr2:178764602;178764601;178764600 | chr2:179629329;179629328;179629327 |
| N2AB | 3305 | 10138;10139;10140 | chr2:178764602;178764601;178764600 | chr2:179629329;179629328;179629327 |
| N2A | 3305 | 10138;10139;10140 | chr2:178764602;178764601;178764600 | chr2:179629329;179629328;179629327 |
| N2B | 3259 | 10000;10001;10002 | chr2:178764602;178764601;178764600 | chr2:179629329;179629328;179629327 |
| Novex-1 | 3259 | 10000;10001;10002 | chr2:178764602;178764601;178764600 | chr2:179629329;179629328;179629327 |
| Novex-2 | 3259 | 10000;10001;10002 | chr2:178764602;178764601;178764600 | chr2:179629329;179629328;179629327 |
| Novex-3 | 3305 | 10138;10139;10140 | chr2:178764602;178764601;178764600 | chr2:179629329;179629328;179629327 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | None | None | 1.0 | D | 0.779 | 0.899 | 0.666850800596 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62502E-06 | 0 | 0 |
| D/H | None | None | 1.0 | D | 0.836 | 0.829 | 0.639199560535 | gnomAD-4.0.0 | 6.84078E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99295E-07 | 0 | 0 |
| D/N | rs746334195  |
-0.613 | 1.0 | D | 0.773 | 0.794 | 0.597400496174 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.82E-06 | 0 |
| D/N | rs746334195 |
-0.613 | 1.0 | D | 0.773 | 0.794 | 0.597400496174 | gnomAD-4.0.0 | 6.84078E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99295E-07 | 0 | 0 |
| D/Y | rs746334195 |
1.216 | 1.0 | D | 0.863 | 0.872 | 0.861210064198 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.82E-06 | 0 |
| D/Y | rs746334195 |
1.216 | 1.0 | D | 0.863 | 0.872 | 0.861210064198 | gnomAD-4.0.0 | 6.84078E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99295E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9894 | likely_pathogenic | 0.9881 | pathogenic | 0.643 | Stabilizing | 1.0 | D | 0.843 | deleterious | D | 0.781501559 | None | None | N |
| D/C | 0.9985 | likely_pathogenic | 0.9982 | pathogenic | 0.425 | Stabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| D/E | 0.942 | likely_pathogenic | 0.9462 | pathogenic | -0.609 | Destabilizing | 1.0 | D | 0.577 | neutral | D | 0.746392561 | None | None | N |
| D/F | 0.9972 | likely_pathogenic | 0.9961 | pathogenic | 1.296 | Stabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| D/G | 0.9883 | likely_pathogenic | 0.9864 | pathogenic | 0.168 | Stabilizing | 1.0 | D | 0.779 | deleterious | D | 0.814029755 | None | None | N |
| D/H | 0.9859 | likely_pathogenic | 0.9805 | pathogenic | 0.885 | Stabilizing | 1.0 | D | 0.836 | deleterious | D | 0.678386229 | None | None | N |
| D/I | 0.9976 | likely_pathogenic | 0.9973 | pathogenic | 1.917 | Stabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| D/K | 0.9966 | likely_pathogenic | 0.9967 | pathogenic | 0.158 | Stabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| D/L | 0.9954 | likely_pathogenic | 0.9949 | pathogenic | 1.917 | Stabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| D/M | 0.9976 | likely_pathogenic | 0.9972 | pathogenic | 2.229 | Highly Stabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| D/N | 0.9249 | likely_pathogenic | 0.9136 | pathogenic | -0.611 | Destabilizing | 1.0 | D | 0.773 | deleterious | D | 0.710361643 | None | None | N |
| D/P | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | 1.523 | Stabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| D/Q | 0.9949 | likely_pathogenic | 0.9941 | pathogenic | -0.247 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| D/R | 0.9979 | likely_pathogenic | 0.9977 | pathogenic | 0.153 | Stabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| D/S | 0.9837 | likely_pathogenic | 0.9813 | pathogenic | -0.888 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| D/T | 0.9959 | likely_pathogenic | 0.9956 | pathogenic | -0.458 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| D/V | 0.991 | likely_pathogenic | 0.9897 | pathogenic | 1.523 | Stabilizing | 1.0 | D | 0.85 | deleterious | D | 0.81399245 | None | None | N |
| D/W | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | 1.229 | Stabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| D/Y | 0.9717 | likely_pathogenic | 0.9643 | pathogenic | 1.535 | Stabilizing | 1.0 | D | 0.863 | deleterious | D | 0.780809493 | 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.