Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26405 | 79438;79439;79440 | chr2:178566919;178566918;178566917 | chr2:179431646;179431645;179431644 |
| N2AB | 24764 | 74515;74516;74517 | chr2:178566919;178566918;178566917 | chr2:179431646;179431645;179431644 |
| N2A | 23837 | 71734;71735;71736 | chr2:178566919;178566918;178566917 | chr2:179431646;179431645;179431644 |
| N2B | 17340 | 52243;52244;52245 | chr2:178566919;178566918;178566917 | chr2:179431646;179431645;179431644 |
| Novex-1 | 17465 | 52618;52619;52620 | chr2:178566919;178566918;178566917 | chr2:179431646;179431645;179431644 |
| Novex-2 | 17532 | 52819;52820;52821 | chr2:178566919;178566918;178566917 | chr2:179431646;179431645;179431644 |
| 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/I | rs769972835  |
0.01 | 0.901 | N | 0.291 | 0.106 | None | gnomAD-2.1.1 | 3.22E-05 | None | None | None | None | N | None | 1.29416E-04 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 1.85632E-04 | 8.92E-06 | 0 |
| V/I | rs769972835 |
0.01 | 0.901 | N | 0.291 | 0.106 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs769972835 |
0.01 | 0.901 | N | 0.291 | 0.106 | None | gnomAD-4.0.0 | 2.23121E-05 | None | None | None | None | N | None | 4.00609E-05 | 0 | None | 0 | 0 | None | 6.2498E-05 | 0 | 2.03444E-05 | 3.29366E-05 | 3.20287E-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 | 0.7878 | likely_pathogenic | 0.7853 | pathogenic | -2.076 | Highly Destabilizing | 0.992 | D | 0.628 | neutral | N | 0.51015187 | None | None | N |
| V/C | 0.9444 | likely_pathogenic | 0.9359 | pathogenic | -1.525 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| V/D | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -3.168 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | D | 0.534043023 | None | None | N |
| V/E | 0.9959 | likely_pathogenic | 0.9962 | pathogenic | -2.828 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| V/F | 0.77 | likely_pathogenic | 0.7867 | pathogenic | -1.182 | Destabilizing | 0.999 | D | 0.769 | deleterious | N | 0.509391401 | None | None | N |
| V/G | 0.956 | likely_pathogenic | 0.9617 | pathogenic | -2.712 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | N | 0.511165828 | None | None | N |
| V/H | 0.998 | likely_pathogenic | 0.9982 | pathogenic | -2.811 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| V/I | 0.0751 | likely_benign | 0.0725 | benign | -0.225 | Destabilizing | 0.901 | D | 0.291 | neutral | N | 0.463876313 | None | None | N |
| V/K | 0.9971 | likely_pathogenic | 0.9974 | pathogenic | -1.711 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| V/L | 0.1876 | likely_benign | 0.2084 | benign | -0.225 | Destabilizing | 0.985 | D | 0.625 | neutral | N | 0.399008397 | None | None | N |
| V/M | 0.4473 | ambiguous | 0.472 | ambiguous | -0.495 | Destabilizing | 0.999 | D | 0.737 | prob.delet. | None | None | None | None | N |
| V/N | 0.9947 | likely_pathogenic | 0.9943 | pathogenic | -2.468 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| V/P | 0.995 | likely_pathogenic | 0.9959 | pathogenic | -0.823 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| V/Q | 0.994 | likely_pathogenic | 0.9946 | pathogenic | -2.042 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| V/R | 0.9938 | likely_pathogenic | 0.9945 | pathogenic | -1.987 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| V/S | 0.9746 | likely_pathogenic | 0.9742 | pathogenic | -2.948 | Highly Destabilizing | 0.999 | D | 0.855 | deleterious | None | None | None | None | N |
| V/T | 0.9244 | likely_pathogenic | 0.9256 | pathogenic | -2.434 | Highly Destabilizing | 0.997 | D | 0.689 | prob.neutral | None | None | None | None | N |
| V/W | 0.9976 | likely_pathogenic | 0.9976 | pathogenic | -1.799 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| V/Y | 0.9889 | likely_pathogenic | 0.9885 | pathogenic | -1.418 | Destabilizing | 1.0 | D | 0.773 | 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.