Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3212 | 9859;9860;9861 | chr2:178766450;178766449;178766448 | chr2:179631177;179631176;179631175 |
| N2AB | 3212 | 9859;9860;9861 | chr2:178766450;178766449;178766448 | chr2:179631177;179631176;179631175 |
| N2A | 3212 | 9859;9860;9861 | chr2:178766450;178766449;178766448 | chr2:179631177;179631176;179631175 |
| N2B | 3166 | 9721;9722;9723 | chr2:178766450;178766449;178766448 | chr2:179631177;179631176;179631175 |
| Novex-1 | 3166 | 9721;9722;9723 | chr2:178766450;178766449;178766448 | chr2:179631177;179631176;179631175 |
| Novex-2 | 3166 | 9721;9722;9723 | chr2:178766450;178766449;178766448 | chr2:179631177;179631176;179631175 |
| Novex-3 | 3212 | 9859;9860;9861 | chr2:178766450;178766449;178766448 | chr2:179631177;179631176;179631175 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/K | rs1226969863  |
0.37 | 0.001 | N | 0.175 | 0.078 | 0.0611884634855 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.41849E-04 | None | 0 | None | 0 | 0 | 0 |
| Q/K | rs1226969863 |
0.37 | 0.001 | N | 0.175 | 0.078 | 0.0611884634855 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92604E-04 | None | 0 | 0 | 0 | 0 | 0 |
| Q/K | rs1226969863 |
0.37 | 0.001 | N | 0.175 | 0.078 | 0.0611884634855 | gnomAD-4.0.0 | 6.57125E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.92604E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.1549 | likely_benign | 0.1667 | benign | -0.344 | Destabilizing | 0.002 | N | 0.289 | neutral | None | None | None | None | N |
| Q/C | 0.3456 | ambiguous | 0.4781 | ambiguous | 0.22 | Stabilizing | 0.316 | N | 0.231 | neutral | None | None | None | None | N |
| Q/D | 0.2602 | likely_benign | 0.3301 | benign | -0.113 | Destabilizing | 0.009 | N | 0.175 | neutral | None | None | None | None | N |
| Q/E | 0.0889 | likely_benign | 0.1026 | benign | -0.141 | Destabilizing | 0.001 | N | 0.181 | neutral | N | 0.349551384 | None | None | N |
| Q/F | 0.3247 | likely_benign | 0.3719 | ambiguous | -0.529 | Destabilizing | None | N | 0.206 | neutral | None | None | None | None | N |
| Q/G | 0.2109 | likely_benign | 0.267 | benign | -0.542 | Destabilizing | 0.004 | N | 0.299 | neutral | None | None | None | None | N |
| Q/H | 0.0738 | likely_benign | 0.0852 | benign | -0.529 | Destabilizing | None | N | 0.117 | neutral | N | 0.3462355 | None | None | N |
| Q/I | 0.24 | likely_benign | 0.2937 | benign | 0.094 | Stabilizing | 0.002 | N | 0.319 | neutral | None | None | None | None | N |
| Q/K | 0.0961 | likely_benign | 0.1265 | benign | 0.044 | Stabilizing | 0.001 | N | 0.175 | neutral | N | 0.347058736 | None | None | N |
| Q/L | 0.0734 | likely_benign | 0.0833 | benign | 0.094 | Stabilizing | None | N | 0.158 | neutral | N | 0.346333783 | None | None | N |
| Q/M | 0.2769 | likely_benign | 0.3088 | benign | 0.53 | Stabilizing | None | N | 0.163 | neutral | None | None | None | None | N |
| Q/N | 0.136 | likely_benign | 0.1478 | benign | -0.259 | Destabilizing | 0.002 | N | 0.17 | neutral | None | None | None | None | N |
| Q/P | 0.0806 | likely_benign | 0.0911 | benign | -0.024 | Destabilizing | 0.013 | N | 0.288 | neutral | N | 0.339514029 | None | None | N |
| Q/R | 0.0859 | likely_benign | 0.1146 | benign | 0.201 | Stabilizing | None | N | 0.119 | neutral | N | 0.332638563 | None | None | N |
| Q/S | 0.1698 | likely_benign | 0.1798 | benign | -0.282 | Destabilizing | 0.004 | N | 0.168 | neutral | None | None | None | None | N |
| Q/T | 0.1787 | likely_benign | 0.1981 | benign | -0.153 | Destabilizing | 0.004 | N | 0.279 | neutral | None | None | None | None | N |
| Q/V | 0.1716 | likely_benign | 0.2122 | benign | -0.024 | Destabilizing | 0.001 | N | 0.306 | neutral | None | None | None | None | N |
| Q/W | 0.3013 | likely_benign | 0.4368 | ambiguous | -0.459 | Destabilizing | 0.132 | N | 0.217 | neutral | None | None | None | None | N |
| Q/Y | 0.1588 | likely_benign | 0.2043 | benign | -0.217 | Destabilizing | None | N | 0.186 | 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.