Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 68 | 427;428;429 | chr2:178802231;178802230;178802229 | chr2:179666958;179666957;179666956 |
| N2AB | 68 | 427;428;429 | chr2:178802231;178802230;178802229 | chr2:179666958;179666957;179666956 |
| N2A | 68 | 427;428;429 | chr2:178802231;178802230;178802229 | chr2:179666958;179666957;179666956 |
| N2B | 68 | 427;428;429 | chr2:178802231;178802230;178802229 | chr2:179666958;179666957;179666956 |
| Novex-1 | 68 | 427;428;429 | chr2:178802231;178802230;178802229 | chr2:179666958;179666957;179666956 |
| Novex-2 | 68 | 427;428;429 | chr2:178802231;178802230;178802229 | chr2:179666958;179666957;179666956 |
| Novex-3 | 68 | 427;428;429 | chr2:178802231;178802230;178802229 | chr2:179666958;179666957;179666956 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/S | rs876658046  |
None | 0.021 | N | 0.185 | 0.193 | 0.190952846119 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | -0.255(TCAP) | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs876658046 |
None | 0.021 | N | 0.185 | 0.193 | 0.190952846119 | gnomAD-4.0.0 | 9.2937E-06 | None | None | None | -0.255(TCAP) | N | None | 1.33486E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.1017E-05 | 0 | 1.60046E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1316 | likely_benign | 0.1521 | benign | -0.932 | Destabilizing | 0.001 | N | 0.191 | neutral | N | 0.410433906 | None | -0.55(TCAP) | N |
| P/C | 0.8961 | likely_pathogenic | 0.9149 | pathogenic | -0.748 | Destabilizing | 0.943 | D | 0.629 | neutral | None | None | None | -0.207(TCAP) | N |
| P/D | 0.5987 | likely_pathogenic | 0.6711 | pathogenic | -0.625 | Destabilizing | 0.131 | N | 0.458 | neutral | None | None | None | -0.447(TCAP) | N |
| P/E | 0.4109 | ambiguous | 0.4876 | ambiguous | -0.719 | Destabilizing | 0.193 | N | 0.444 | neutral | None | None | None | -0.551(TCAP) | N |
| P/F | 0.7072 | likely_pathogenic | 0.7685 | pathogenic | -1.038 | Destabilizing | 0.982 | D | 0.639 | neutral | None | None | None | 0.173(TCAP) | N |
| P/G | 0.4319 | ambiguous | 0.4868 | ambiguous | -1.124 | Destabilizing | 0.435 | N | 0.511 | neutral | None | None | None | -0.53(TCAP) | N |
| P/H | 0.3606 | ambiguous | 0.4277 | ambiguous | -0.658 | Destabilizing | 0.994 | D | 0.602 | neutral | N | 0.481305799 | None | 0.128(TCAP) | N |
| P/I | 0.5556 | ambiguous | 0.636 | pathogenic | -0.557 | Destabilizing | 0.964 | D | 0.625 | neutral | None | None | None | -0.635(TCAP) | N |
| P/K | 0.4857 | ambiguous | 0.5677 | pathogenic | -0.67 | Destabilizing | 0.884 | D | 0.441 | neutral | None | None | None | -0.744(TCAP) | N |
| P/L | 0.1857 | likely_benign | 0.2201 | benign | -0.557 | Destabilizing | 0.743 | D | 0.552 | neutral | N | 0.465365153 | None | -0.635(TCAP) | N |
| P/M | 0.5371 | ambiguous | 0.6018 | pathogenic | -0.401 | Destabilizing | 0.996 | D | 0.601 | neutral | None | None | None | -0.3(TCAP) | N |
| P/N | 0.4688 | ambiguous | 0.5239 | ambiguous | -0.387 | Destabilizing | 0.769 | D | 0.54 | neutral | None | None | None | -0.523(TCAP) | N |
| P/Q | 0.2359 | likely_benign | 0.2869 | benign | -0.673 | Destabilizing | 0.953 | D | 0.546 | neutral | None | None | None | -0.457(TCAP) | N |
| P/R | 0.2816 | likely_benign | 0.3553 | ambiguous | -0.107 | Destabilizing | 0.953 | D | 0.604 | neutral | N | 0.388133249 | None | -0.913(TCAP) | N |
| P/S | 0.1723 | likely_benign | 0.199 | benign | -0.829 | Destabilizing | 0.021 | N | 0.185 | neutral | N | 0.383058396 | None | -0.255(TCAP) | N |
| P/T | 0.1693 | likely_benign | 0.2077 | benign | -0.822 | Destabilizing | 0.01 | N | 0.231 | neutral | N | 0.419120041 | None | -0.332(TCAP) | N |
| P/V | 0.3948 | ambiguous | 0.4655 | ambiguous | -0.646 | Destabilizing | 0.401 | N | 0.534 | neutral | None | None | None | -0.603(TCAP) | N |
| P/W | 0.8426 | likely_pathogenic | 0.8857 | pathogenic | -1.098 | Destabilizing | 0.998 | D | 0.694 | prob.neutral | None | None | None | 0.215(TCAP) | N |
| P/Y | 0.6935 | likely_pathogenic | 0.7604 | pathogenic | -0.8 | Destabilizing | 0.994 | D | 0.641 | neutral | None | None | None | 0.141(TCAP) | 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.