Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26363 | 79312;79313;79314 | chr2:178567045;178567044;178567043 | chr2:179431772;179431771;179431770 |
| N2AB | 24722 | 74389;74390;74391 | chr2:178567045;178567044;178567043 | chr2:179431772;179431771;179431770 |
| N2A | 23795 | 71608;71609;71610 | chr2:178567045;178567044;178567043 | chr2:179431772;179431771;179431770 |
| N2B | 17298 | 52117;52118;52119 | chr2:178567045;178567044;178567043 | chr2:179431772;179431771;179431770 |
| Novex-1 | 17423 | 52492;52493;52494 | chr2:178567045;178567044;178567043 | chr2:179431772;179431771;179431770 |
| Novex-2 | 17490 | 52693;52694;52695 | chr2:178567045;178567044;178567043 | chr2:179431772;179431771;179431770 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | None | None | 1.0 | D | 0.781 | 0.706 | 0.57631073843 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9367 | likely_pathogenic | 0.9143 | pathogenic | -1.687 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| A/D | 0.9974 | likely_pathogenic | 0.9977 | pathogenic | -2.579 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.573219226 | None | None | N |
| A/E | 0.9972 | likely_pathogenic | 0.9976 | pathogenic | -2.359 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| A/F | 0.9961 | likely_pathogenic | 0.9957 | pathogenic | -0.52 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| A/G | 0.1782 | likely_benign | 0.1689 | benign | -2.122 | Highly Destabilizing | 1.0 | D | 0.613 | neutral | N | 0.500851431 | None | None | N |
| A/H | 0.9984 | likely_pathogenic | 0.9986 | pathogenic | -1.989 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| A/I | 0.9946 | likely_pathogenic | 0.994 | pathogenic | -0.598 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| A/K | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -1.366 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| A/L | 0.9677 | likely_pathogenic | 0.9643 | pathogenic | -0.598 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| A/M | 0.9857 | likely_pathogenic | 0.9844 | pathogenic | -1.125 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| A/N | 0.9922 | likely_pathogenic | 0.9927 | pathogenic | -1.8 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| A/P | 0.5943 | likely_pathogenic | 0.6171 | pathogenic | -0.946 | Destabilizing | 1.0 | D | 0.873 | deleterious | N | 0.518577293 | None | None | N |
| A/Q | 0.9952 | likely_pathogenic | 0.9956 | pathogenic | -1.487 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| A/R | 0.9973 | likely_pathogenic | 0.9975 | pathogenic | -1.487 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| A/S | 0.4716 | ambiguous | 0.5339 | ambiguous | -2.14 | Highly Destabilizing | 1.0 | D | 0.597 | neutral | N | 0.514459008 | None | None | N |
| A/T | 0.9303 | likely_pathogenic | 0.9403 | pathogenic | -1.824 | Destabilizing | 1.0 | D | 0.781 | deleterious | D | 0.557807088 | None | None | N |
| A/V | 0.9579 | likely_pathogenic | 0.9574 | pathogenic | -0.946 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | D | 0.552833565 | None | None | N |
| A/W | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.136 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| A/Y | 0.9981 | likely_pathogenic | 0.9979 | pathogenic | -0.917 | Destabilizing | 1.0 | D | 0.91 | deleterious | 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.