Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18657 | 56194;56195;56196 | chr2:178600935;178600934;178600933 | chr2:179465662;179465661;179465660 |
| N2AB | 17016 | 51271;51272;51273 | chr2:178600935;178600934;178600933 | chr2:179465662;179465661;179465660 |
| N2A | 16089 | 48490;48491;48492 | chr2:178600935;178600934;178600933 | chr2:179465662;179465661;179465660 |
| N2B | 9592 | 28999;29000;29001 | chr2:178600935;178600934;178600933 | chr2:179465662;179465661;179465660 |
| Novex-1 | 9717 | 29374;29375;29376 | chr2:178600935;178600934;178600933 | chr2:179465662;179465661;179465660 |
| Novex-2 | 9784 | 29575;29576;29577 | chr2:178600935;178600934;178600933 | chr2:179465662;179465661;179465660 |
| 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/S | rs1309684601  |
-3.437 | 1.0 | D | 0.808 | 0.645 | 0.747043374901 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| F/S | rs1309684601 |
-3.437 | 1.0 | D | 0.808 | 0.645 | 0.747043374901 | gnomAD-4.0.0 | 1.59296E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86172E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9976 | likely_pathogenic | 0.9973 | pathogenic | -2.995 | Highly Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| F/C | 0.98 | likely_pathogenic | 0.9731 | pathogenic | -1.895 | Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.548948181 | None | None | N |
| F/D | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -3.921 | Highly Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| F/E | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -3.684 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| F/G | 0.9974 | likely_pathogenic | 0.9974 | pathogenic | -3.447 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| F/H | 0.9972 | likely_pathogenic | 0.9968 | pathogenic | -2.358 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| F/I | 0.9228 | likely_pathogenic | 0.8927 | pathogenic | -1.486 | Destabilizing | 1.0 | D | 0.754 | deleterious | N | 0.494983676 | None | None | N |
| F/K | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -2.545 | Highly Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| F/L | 0.9931 | likely_pathogenic | 0.9896 | pathogenic | -1.486 | Destabilizing | 0.999 | D | 0.657 | neutral | N | 0.496251124 | None | None | N |
| F/M | 0.9665 | likely_pathogenic | 0.9573 | pathogenic | -1.179 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| F/N | 0.9984 | likely_pathogenic | 0.9984 | pathogenic | -3.245 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| F/P | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.007 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| F/Q | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -3.084 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| F/R | 0.9988 | likely_pathogenic | 0.9988 | pathogenic | -2.261 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| F/S | 0.9985 | likely_pathogenic | 0.9983 | pathogenic | -3.689 | Highly Destabilizing | 1.0 | D | 0.808 | deleterious | D | 0.537591876 | None | None | N |
| F/T | 0.9985 | likely_pathogenic | 0.9983 | pathogenic | -3.33 | Highly Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| F/V | 0.9453 | likely_pathogenic | 0.926 | pathogenic | -2.007 | Highly Destabilizing | 1.0 | D | 0.736 | prob.delet. | N | 0.486572977 | None | None | N |
| F/W | 0.9356 | likely_pathogenic | 0.938 | pathogenic | -0.743 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| F/Y | 0.6367 | likely_pathogenic | 0.634 | pathogenic | -1.201 | Destabilizing | 0.999 | D | 0.591 | neutral | N | 0.496165899 | 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.