Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24226 | 72901;72902;72903 | chr2:178573456;178573455;178573454 | chr2:179438183;179438182;179438181 |
| N2AB | 22585 | 67978;67979;67980 | chr2:178573456;178573455;178573454 | chr2:179438183;179438182;179438181 |
| N2A | 21658 | 65197;65198;65199 | chr2:178573456;178573455;178573454 | chr2:179438183;179438182;179438181 |
| N2B | 15161 | 45706;45707;45708 | chr2:178573456;178573455;178573454 | chr2:179438183;179438182;179438181 |
| Novex-1 | 15286 | 46081;46082;46083 | chr2:178573456;178573455;178573454 | chr2:179438183;179438182;179438181 |
| Novex-2 | 15353 | 46282;46283;46284 | chr2:178573456;178573455;178573454 | chr2:179438183;179438182;179438181 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | rs774958680  |
-2.584 | 1.0 | D | 0.809 | 0.56 | 0.64355711587 | gnomAD-2.1.1 | 5.76E-06 | None | None | None | None | N | None | 0 | 5.04E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/A | rs774958680 |
-2.584 | 1.0 | D | 0.809 | 0.56 | 0.64355711587 | gnomAD-4.0.0 | 1.88468E-06 | None | None | None | None | N | None | 0 | 3.6622E-05 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.633 | likely_pathogenic | 0.5472 | ambiguous | -2.444 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.544967342 | None | None | N |
| P/C | 0.8972 | likely_pathogenic | 0.8425 | pathogenic | -2.316 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| P/D | 0.9989 | likely_pathogenic | 0.9987 | pathogenic | -3.471 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| P/E | 0.9961 | likely_pathogenic | 0.9955 | pathogenic | -3.25 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/F | 0.9979 | likely_pathogenic | 0.9974 | pathogenic | -1.207 | Destabilizing | 1.0 | D | 0.918 | deleterious | None | None | None | None | N |
| P/G | 0.9781 | likely_pathogenic | 0.9692 | pathogenic | -2.914 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| P/H | 0.9952 | likely_pathogenic | 0.9942 | pathogenic | -2.425 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.584000236 | None | None | N |
| P/I | 0.9453 | likely_pathogenic | 0.9283 | pathogenic | -1.103 | Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | N |
| P/K | 0.9979 | likely_pathogenic | 0.9975 | pathogenic | -1.95 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| P/L | 0.8596 | likely_pathogenic | 0.8218 | pathogenic | -1.103 | Destabilizing | 1.0 | D | 0.903 | deleterious | D | 0.570704919 | None | None | N |
| P/M | 0.9737 | likely_pathogenic | 0.9671 | pathogenic | -1.553 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| P/N | 0.9977 | likely_pathogenic | 0.9971 | pathogenic | -2.419 | Highly Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| P/Q | 0.9895 | likely_pathogenic | 0.9862 | pathogenic | -2.242 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| P/R | 0.9922 | likely_pathogenic | 0.9902 | pathogenic | -1.752 | Destabilizing | 1.0 | D | 0.923 | deleterious | D | 0.583493257 | None | None | N |
| P/S | 0.9486 | likely_pathogenic | 0.931 | pathogenic | -2.897 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.572225857 | None | None | N |
| P/T | 0.9239 | likely_pathogenic | 0.9005 | pathogenic | -2.555 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.571465388 | None | None | N |
| P/V | 0.8264 | likely_pathogenic | 0.7745 | pathogenic | -1.531 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| P/W | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -1.68 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| P/Y | 0.9989 | likely_pathogenic | 0.9986 | pathogenic | -1.469 | Destabilizing | 1.0 | D | 0.92 | 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.