Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33749 | 101470;101471;101472 | chr2:178535370;178535369;178535368 | chr2:179400097;179400096;179400095 |
| N2AB | 32108 | 96547;96548;96549 | chr2:178535370;178535369;178535368 | chr2:179400097;179400096;179400095 |
| N2A | 31181 | 93766;93767;93768 | chr2:178535370;178535369;178535368 | chr2:179400097;179400096;179400095 |
| N2B | 24684 | 74275;74276;74277 | chr2:178535370;178535369;178535368 | chr2:179400097;179400096;179400095 |
| Novex-1 | 24809 | 74650;74651;74652 | chr2:178535370;178535369;178535368 | chr2:179400097;179400096;179400095 |
| Novex-2 | 24876 | 74851;74852;74853 | chr2:178535370;178535369;178535368 | chr2:179400097;179400096;179400095 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | 0.999 | N | 0.659 | 0.463 | 0.773610404518 | 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 |
| V/G | None | None | 1.0 | D | 0.843 | 0.692 | 0.88705266108 | 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 |
| V/M | rs201554140  |
-0.177 | 1.0 | N | 0.721 | 0.416 | None | gnomAD-2.1.1 | 7.92014E-04 | None | None | None | None | N | None | 7.89387E-03 | 2.54525E-04 | None | 0 | 0 | None | 3.27E-05 | None | 1.2001E-04 | 1.2486E-04 | 2.80505E-04 |
| V/M | rs201554140 |
-0.177 | 1.0 | N | 0.721 | 0.416 | None | gnomAD-3.1.2 | 2.01748E-03 | None | None | None | None | N | None | 6.85394E-03 | 4.58295E-04 | 0 | 0 | 0 | None | 1.88466E-04 | 0 | 1.4699E-04 | 0 | 1.91205E-03 |
| V/M | rs201554140 |
-0.177 | 1.0 | N | 0.721 | 0.416 | None | 1000 genomes | 1.39776E-03 | None | None | None | None | N | None | 5.3E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| V/M | rs201554140 |
-0.177 | 1.0 | N | 0.721 | 0.416 | None | gnomAD-4.0.0 | 4.27539E-04 | None | None | None | None | N | None | 7.30394E-03 | 2.9993E-04 | None | 0 | 4.0107E-04 | None | 9.3794E-05 | 3.29924E-04 | 5.17016E-05 | 4.39155E-05 | 5.28101E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.7657 | likely_pathogenic | 0.7856 | pathogenic | -1.74 | Destabilizing | 0.999 | D | 0.659 | neutral | N | 0.474542925 | None | None | N |
| V/C | 0.9571 | likely_pathogenic | 0.9661 | pathogenic | -1.302 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| V/D | 0.9981 | likely_pathogenic | 0.999 | pathogenic | -2.519 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| V/E | 0.9929 | likely_pathogenic | 0.996 | pathogenic | -2.216 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | N | 0.514474418 | None | None | N |
| V/F | 0.9141 | likely_pathogenic | 0.9463 | pathogenic | -1.009 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| V/G | 0.9573 | likely_pathogenic | 0.968 | pathogenic | -2.343 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.537187029 | None | None | N |
| V/H | 0.9983 | likely_pathogenic | 0.999 | pathogenic | -2.327 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| V/I | 0.1328 | likely_benign | 0.1504 | benign | -0.02 | Destabilizing | 0.722 | D | 0.217 | neutral | None | None | None | None | N |
| V/K | 0.996 | likely_pathogenic | 0.9977 | pathogenic | -1.459 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| V/L | 0.7069 | likely_pathogenic | 0.7791 | pathogenic | -0.02 | Destabilizing | 0.968 | D | 0.561 | neutral | N | 0.510571395 | None | None | N |
| V/M | 0.7333 | likely_pathogenic | 0.8111 | pathogenic | -0.199 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | N | 0.513967439 | None | None | N |
| V/N | 0.9929 | likely_pathogenic | 0.9958 | pathogenic | -2.053 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| V/P | 0.9929 | likely_pathogenic | 0.9953 | pathogenic | -0.57 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| V/Q | 0.9923 | likely_pathogenic | 0.9954 | pathogenic | -1.699 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| V/R | 0.9931 | likely_pathogenic | 0.9959 | pathogenic | -1.671 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| V/S | 0.9644 | likely_pathogenic | 0.9739 | pathogenic | -2.629 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| V/T | 0.9058 | likely_pathogenic | 0.9209 | pathogenic | -2.148 | Highly Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| V/W | 0.9993 | likely_pathogenic | 0.9996 | pathogenic | -1.574 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| V/Y | 0.9954 | likely_pathogenic | 0.9975 | pathogenic | -1.115 | Destabilizing | 1.0 | D | 0.792 | 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.