Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35201 | 105826;105827;105828 | chr2:178531014;178531013;178531012 | chr2:179395741;179395740;179395739 |
| N2AB | 33560 | 100903;100904;100905 | chr2:178531014;178531013;178531012 | chr2:179395741;179395740;179395739 |
| N2A | 32633 | 98122;98123;98124 | chr2:178531014;178531013;178531012 | chr2:179395741;179395740;179395739 |
| N2B | 26136 | 78631;78632;78633 | chr2:178531014;178531013;178531012 | chr2:179395741;179395740;179395739 |
| Novex-1 | 26261 | 79006;79007;79008 | chr2:178531014;178531013;178531012 | chr2:179395741;179395740;179395739 |
| Novex-2 | 26328 | 79207;79208;79209 | chr2:178531014;178531013;178531012 | chr2:179395741;179395740;179395739 |
| 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 | 0.997 | N | 0.725 | 0.414 | 0.523031302909 | gnomAD-4.0.0 | 6.84141E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.7337E-04 | 0 | 0 | 0 |
| V/E | rs1411169716  |
-2.987 | 0.999 | N | 0.884 | 0.653 | 0.632219009948 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.49E-05 | 0 |
| V/E | rs1411169716 |
-2.987 | 0.999 | N | 0.884 | 0.653 | 0.632219009948 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/E | rs1411169716 |
-2.987 | 0.999 | N | 0.884 | 0.653 | 0.632219009948 | gnomAD-4.0.0 | 1.23942E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69515E-06 | 0 | 0 |
| V/M | rs397517797 |
-0.864 | 1.0 | N | 0.76 | 0.342 | 0.528308644755 | gnomAD-2.1.1 | 6.42E-05 | None | None | None | None | N | None | 0 | 3.18582E-04 | None | 0 | 1.11259E-04 | None | 6.54E-05 | None | 0 | 8.86E-06 | 0 |
| V/M | rs397517797 |
-0.864 | 1.0 | N | 0.76 | 0.342 | 0.528308644755 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | rs397517797 |
-0.864 | 1.0 | N | 0.76 | 0.342 | 0.528308644755 | gnomAD-4.0.0 | 2.10683E-05 | None | None | None | None | N | None | 1.33504E-05 | 1.83358E-04 | None | 0 | 2.22777E-05 | None | 0 | 0 | 1.01704E-05 | 8.78291E-05 | 1.60087E-05 |
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 | 0.5946 | likely_pathogenic | 0.6459 | pathogenic | -2.048 | Highly Destabilizing | 0.997 | D | 0.725 | prob.delet. | N | 0.498633886 | None | None | N |
| V/C | 0.9523 | likely_pathogenic | 0.9571 | pathogenic | -1.269 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| V/D | 0.9972 | likely_pathogenic | 0.9983 | pathogenic | -2.872 | Highly Destabilizing | 0.999 | D | 0.881 | deleterious | None | None | None | None | N |
| V/E | 0.9884 | likely_pathogenic | 0.9924 | pathogenic | -2.567 | Highly Destabilizing | 0.999 | D | 0.884 | deleterious | N | 0.483168119 | None | None | N |
| V/F | 0.7014 | likely_pathogenic | 0.7537 | pathogenic | -1.085 | Destabilizing | 0.999 | D | 0.821 | deleterious | None | None | None | None | N |
| V/G | 0.9055 | likely_pathogenic | 0.9293 | pathogenic | -2.636 | Highly Destabilizing | 0.999 | D | 0.885 | deleterious | N | 0.48291463 | None | None | N |
| V/H | 0.9972 | likely_pathogenic | 0.998 | pathogenic | -2.572 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| V/I | 0.1143 | likely_benign | 0.1134 | benign | -0.343 | Destabilizing | 0.994 | D | 0.584 | neutral | None | None | None | None | N |
| V/K | 0.9927 | likely_pathogenic | 0.9944 | pathogenic | -1.42 | Destabilizing | 0.999 | D | 0.885 | deleterious | None | None | None | None | N |
| V/L | 0.3381 | likely_benign | 0.372 | ambiguous | -0.343 | Destabilizing | 0.997 | D | 0.7 | prob.neutral | N | 0.486838025 | None | None | N |
| V/M | 0.4035 | ambiguous | 0.4594 | ambiguous | -0.55 | Destabilizing | 1.0 | D | 0.76 | deleterious | N | 0.464556885 | None | None | N |
| V/N | 0.9909 | likely_pathogenic | 0.9935 | pathogenic | -2.028 | Highly Destabilizing | 0.999 | D | 0.905 | deleterious | None | None | None | None | N |
| V/P | 0.9958 | likely_pathogenic | 0.997 | pathogenic | -0.892 | Destabilizing | 0.999 | D | 0.871 | deleterious | None | None | None | None | N |
| V/Q | 0.9854 | likely_pathogenic | 0.9895 | pathogenic | -1.689 | Destabilizing | 0.999 | D | 0.895 | deleterious | None | None | None | None | N |
| V/R | 0.9844 | likely_pathogenic | 0.9881 | pathogenic | -1.584 | Destabilizing | 0.999 | D | 0.907 | deleterious | None | None | None | None | N |
| V/S | 0.9428 | likely_pathogenic | 0.9564 | pathogenic | -2.534 | Highly Destabilizing | 0.999 | D | 0.877 | deleterious | None | None | None | None | N |
| V/T | 0.7982 | likely_pathogenic | 0.8199 | pathogenic | -2.078 | Highly Destabilizing | 0.998 | D | 0.734 | prob.delet. | None | None | None | None | N |
| V/W | 0.9957 | likely_pathogenic | 0.9973 | pathogenic | -1.675 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| V/Y | 0.9851 | likely_pathogenic | 0.9894 | pathogenic | -1.305 | Destabilizing | 0.999 | D | 0.817 | 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.