Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18244 | 54955;54956;54957 | chr2:178603957;178603956;178603955 | chr2:179468684;179468683;179468682 |
| N2AB | 16603 | 50032;50033;50034 | chr2:178603957;178603956;178603955 | chr2:179468684;179468683;179468682 |
| N2A | 15676 | 47251;47252;47253 | chr2:178603957;178603956;178603955 | chr2:179468684;179468683;179468682 |
| N2B | 9179 | 27760;27761;27762 | chr2:178603957;178603956;178603955 | chr2:179468684;179468683;179468682 |
| Novex-1 | 9304 | 28135;28136;28137 | chr2:178603957;178603956;178603955 | chr2:179468684;179468683;179468682 |
| Novex-2 | 9371 | 28336;28337;28338 | chr2:178603957;178603956;178603955 | chr2:179468684;179468683;179468682 |
| 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/L | rs1301615048  |
-1.129 | 0.989 | N | 0.691 | 0.483 | 0.437741185291 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.35E-05 | 0 |
| F/L | rs1301615048 |
-1.129 | 0.989 | N | 0.691 | 0.483 | 0.437741185291 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.42E-05 | 0 | 0 |
| F/L | rs1301615048 |
-1.129 | 0.989 | N | 0.691 | 0.483 | 0.437741185291 | gnomAD-4.0.0 | 6.41513E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.19856E-05 | 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 | 0.9991 | likely_pathogenic | 0.9984 | pathogenic | -2.954 | Highly Destabilizing | 0.967 | D | 0.757 | deleterious | None | None | None | None | N |
| F/C | 0.9893 | likely_pathogenic | 0.9821 | pathogenic | -1.663 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.545985667 | None | None | N |
| F/D | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -3.77 | Highly Destabilizing | 0.995 | D | 0.841 | deleterious | None | None | None | None | N |
| F/E | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -3.516 | Highly Destabilizing | 0.995 | D | 0.837 | deleterious | None | None | None | None | N |
| F/G | 0.9989 | likely_pathogenic | 0.9976 | pathogenic | -3.428 | Highly Destabilizing | 0.983 | D | 0.799 | deleterious | None | None | None | None | N |
| F/H | 0.9927 | likely_pathogenic | 0.9915 | pathogenic | -2.453 | Highly Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| F/I | 0.9783 | likely_pathogenic | 0.9627 | pathogenic | -1.375 | Destabilizing | 0.997 | D | 0.729 | prob.delet. | N | 0.488071142 | None | None | N |
| F/K | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -2.408 | Highly Destabilizing | 0.995 | D | 0.837 | deleterious | None | None | None | None | N |
| F/L | 0.9972 | likely_pathogenic | 0.9946 | pathogenic | -1.375 | Destabilizing | 0.989 | D | 0.691 | prob.neutral | N | 0.485717739 | None | None | N |
| F/M | 0.9878 | likely_pathogenic | 0.9826 | pathogenic | -1.062 | Destabilizing | 0.999 | D | 0.723 | prob.delet. | None | None | None | None | N |
| F/N | 0.9983 | likely_pathogenic | 0.9977 | pathogenic | -3.133 | Highly Destabilizing | 0.995 | D | 0.844 | deleterious | None | None | None | None | N |
| F/P | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.92 | Destabilizing | 0.998 | D | 0.834 | deleterious | None | None | None | None | N |
| F/Q | 0.9994 | likely_pathogenic | 0.999 | pathogenic | -2.918 | Highly Destabilizing | 0.998 | D | 0.838 | deleterious | None | None | None | None | N |
| F/R | 0.999 | likely_pathogenic | 0.9981 | pathogenic | -2.229 | Highly Destabilizing | 0.998 | D | 0.834 | deleterious | None | None | None | None | N |
| F/S | 0.9989 | likely_pathogenic | 0.9982 | pathogenic | -3.56 | Highly Destabilizing | 0.798 | D | 0.672 | neutral | D | 0.545985667 | None | None | N |
| F/T | 0.9992 | likely_pathogenic | 0.9986 | pathogenic | -3.178 | Highly Destabilizing | 0.967 | D | 0.793 | deleterious | None | None | None | None | N |
| F/V | 0.979 | likely_pathogenic | 0.9639 | pathogenic | -1.92 | Destabilizing | 0.989 | D | 0.745 | deleterious | N | 0.480154196 | None | None | N |
| F/W | 0.9062 | likely_pathogenic | 0.8921 | pathogenic | -0.623 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| F/Y | 0.4629 | ambiguous | 0.4086 | ambiguous | -1.107 | Destabilizing | 0.996 | D | 0.596 | neutral | N | 0.492380464 | 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.