Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18980 | 57163;57164;57165 | chr2:178598772;178598771;178598770 | chr2:179463499;179463498;179463497 |
| N2AB | 17339 | 52240;52241;52242 | chr2:178598772;178598771;178598770 | chr2:179463499;179463498;179463497 |
| N2A | 16412 | 49459;49460;49461 | chr2:178598772;178598771;178598770 | chr2:179463499;179463498;179463497 |
| N2B | 9915 | 29968;29969;29970 | chr2:178598772;178598771;178598770 | chr2:179463499;179463498;179463497 |
| Novex-1 | 10040 | 30343;30344;30345 | chr2:178598772;178598771;178598770 | chr2:179463499;179463498;179463497 |
| Novex-2 | 10107 | 30544;30545;30546 | chr2:178598772;178598771;178598770 | chr2:179463499;179463498;179463497 |
| 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/L | rs753452704  |
-0.08 | 0.966 | N | 0.822 | 0.257 | 0.433379234345 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14811E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs753452704 |
-0.08 | 0.966 | N | 0.822 | 0.257 | 0.433379234345 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs753452704 |
-0.08 | 0.966 | N | 0.822 | 0.257 | 0.433379234345 | gnomAD-4.0.0 | 6.57644E-06 | None | None | None | None | N | None | 2.41324E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | None | None | 0.999 | N | 0.819 | 0.278 | 0.29527378943 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0869 | likely_benign | 0.0907 | benign | -0.479 | Destabilizing | 0.982 | D | 0.747 | deleterious | N | 0.488345109 | None | None | N |
| P/C | 0.4981 | ambiguous | 0.5306 | ambiguous | -0.488 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| P/D | 0.7865 | likely_pathogenic | 0.7764 | pathogenic | -0.34 | Destabilizing | 0.999 | D | 0.852 | deleterious | None | None | None | None | N |
| P/E | 0.5656 | likely_pathogenic | 0.568 | pathogenic | -0.464 | Destabilizing | 0.999 | D | 0.84 | deleterious | None | None | None | None | N |
| P/F | 0.487 | ambiguous | 0.486 | ambiguous | -0.783 | Destabilizing | 0.999 | D | 0.897 | deleterious | None | None | None | None | N |
| P/G | 0.4817 | ambiguous | 0.4765 | ambiguous | -0.616 | Destabilizing | 0.999 | D | 0.847 | deleterious | None | None | None | None | N |
| P/H | 0.3412 | ambiguous | 0.3235 | benign | -0.233 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| P/I | 0.3055 | likely_benign | 0.2985 | benign | -0.272 | Destabilizing | 0.841 | D | 0.572 | neutral | None | None | None | None | N |
| P/K | 0.5495 | ambiguous | 0.5277 | ambiguous | -0.34 | Destabilizing | 0.999 | D | 0.842 | deleterious | None | None | None | None | N |
| P/L | 0.163 | likely_benign | 0.1547 | benign | -0.272 | Destabilizing | 0.966 | D | 0.822 | deleterious | N | 0.462447426 | None | None | N |
| P/M | 0.3647 | ambiguous | 0.3614 | ambiguous | -0.191 | Destabilizing | 0.999 | D | 0.902 | deleterious | None | None | None | None | N |
| P/N | 0.5328 | ambiguous | 0.5471 | ambiguous | -0.016 | Destabilizing | 0.999 | D | 0.911 | deleterious | None | None | None | None | N |
| P/Q | 0.3536 | ambiguous | 0.3441 | ambiguous | -0.307 | Destabilizing | 0.999 | D | 0.853 | deleterious | N | 0.486467164 | None | None | N |
| P/R | 0.3909 | ambiguous | 0.3552 | ambiguous | 0.199 | Stabilizing | 0.999 | D | 0.907 | deleterious | N | 0.475110859 | None | None | N |
| P/S | 0.2006 | likely_benign | 0.2075 | benign | -0.381 | Destabilizing | 0.999 | D | 0.819 | deleterious | N | 0.462994085 | None | None | N |
| P/T | 0.1463 | likely_benign | 0.1514 | benign | -0.406 | Destabilizing | 0.998 | D | 0.775 | deleterious | N | 0.465133679 | None | None | N |
| P/V | 0.1963 | likely_benign | 0.1906 | benign | -0.306 | Destabilizing | 0.974 | D | 0.772 | deleterious | None | None | None | None | N |
| P/W | 0.7856 | likely_pathogenic | 0.7897 | pathogenic | -0.856 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| P/Y | 0.5412 | ambiguous | 0.5342 | ambiguous | -0.534 | Destabilizing | 1.0 | D | 0.899 | 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.