Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30585 | 91978;91979;91980 | chr2:178550085;178550084;178550083 | chr2:179414812;179414811;179414810 |
| N2AB | 28944 | 87055;87056;87057 | chr2:178550085;178550084;178550083 | chr2:179414812;179414811;179414810 |
| N2A | 28017 | 84274;84275;84276 | chr2:178550085;178550084;178550083 | chr2:179414812;179414811;179414810 |
| N2B | 21520 | 64783;64784;64785 | chr2:178550085;178550084;178550083 | chr2:179414812;179414811;179414810 |
| Novex-1 | 21645 | 65158;65159;65160 | chr2:178550085;178550084;178550083 | chr2:179414812;179414811;179414810 |
| Novex-2 | 21712 | 65359;65360;65361 | chr2:178550085;178550084;178550083 | chr2:179414812;179414811;179414810 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/C | None | None | 1.0 | N | 0.789 | 0.529 | 0.822920202348 | gnomAD-4.0.0 | 1.59128E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43283E-05 | 0 |
| F/S | rs927256604  |
-1.97 | 1.0 | N | 0.787 | 0.585 | 0.820560963796 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| F/S | rs927256604 |
-1.97 | 1.0 | N | 0.787 | 0.585 | 0.820560963796 | gnomAD-4.0.0 | 1.59128E-06 | None | None | None | None | N | None | 5.65675E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| F/V | rs1060500507 |
-1.846 | 1.0 | N | 0.713 | 0.512 | 0.828163162091 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| F/V | rs1060500507 |
-1.846 | 1.0 | N | 0.713 | 0.512 | 0.828163162091 | gnomAD-4.0.0 | 1.59127E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77316E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.6299 | likely_pathogenic | 0.6712 | pathogenic | -2.386 | Highly Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| F/C | 0.4464 | ambiguous | 0.4556 | ambiguous | -1.214 | Destabilizing | 1.0 | D | 0.789 | deleterious | N | 0.490884848 | None | None | N |
| F/D | 0.892 | likely_pathogenic | 0.9064 | pathogenic | -0.911 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| F/E | 0.89 | likely_pathogenic | 0.9052 | pathogenic | -0.825 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| F/G | 0.8794 | likely_pathogenic | 0.891 | pathogenic | -2.716 | Highly Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| F/H | 0.5898 | likely_pathogenic | 0.6022 | pathogenic | -0.837 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| F/I | 0.2838 | likely_benign | 0.3074 | benign | -1.392 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | N | 0.434202059 | None | None | N |
| F/K | 0.906 | likely_pathogenic | 0.9181 | pathogenic | -1.193 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| F/L | 0.8418 | likely_pathogenic | 0.8597 | pathogenic | -1.392 | Destabilizing | 0.999 | D | 0.552 | neutral | N | 0.449094153 | None | None | N |
| F/M | 0.5827 | likely_pathogenic | 0.6099 | pathogenic | -1.106 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| F/N | 0.7193 | likely_pathogenic | 0.7441 | pathogenic | -1.168 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| F/P | 0.9968 | likely_pathogenic | 0.9973 | pathogenic | -1.718 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| F/Q | 0.7956 | likely_pathogenic | 0.8162 | pathogenic | -1.3 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| F/R | 0.8135 | likely_pathogenic | 0.8363 | pathogenic | -0.47 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| F/S | 0.4555 | ambiguous | 0.5066 | ambiguous | -2.03 | Highly Destabilizing | 1.0 | D | 0.787 | deleterious | N | 0.461927378 | None | None | N |
| F/T | 0.5183 | ambiguous | 0.5606 | ambiguous | -1.858 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| F/V | 0.304 | likely_benign | 0.3246 | benign | -1.718 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | N | 0.41013312 | None | None | N |
| F/W | 0.5409 | ambiguous | 0.5606 | ambiguous | -0.308 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| F/Y | 0.1806 | likely_benign | 0.1679 | benign | -0.569 | Destabilizing | 0.999 | D | 0.477 | neutral | N | 0.493501078 | 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.