Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17897 | 53914;53915;53916 | chr2:178605606;178605605;178605604 | chr2:179470333;179470332;179470331 |
| N2AB | 16256 | 48991;48992;48993 | chr2:178605606;178605605;178605604 | chr2:179470333;179470332;179470331 |
| N2A | 15329 | 46210;46211;46212 | chr2:178605606;178605605;178605604 | chr2:179470333;179470332;179470331 |
| N2B | 8832 | 26719;26720;26721 | chr2:178605606;178605605;178605604 | chr2:179470333;179470332;179470331 |
| Novex-1 | 8957 | 27094;27095;27096 | chr2:178605606;178605605;178605604 | chr2:179470333;179470332;179470331 |
| Novex-2 | 9024 | 27295;27296;27297 | chr2:178605606;178605605;178605604 | chr2:179470333;179470332;179470331 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs937899757  |
-1.641 | 1.0 | D | 0.879 | 0.849 | 0.897170352848 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.59E-05 | None | 0 | None | 0 | 0 | 0 |
| Y/C | rs937899757 |
-1.641 | 1.0 | D | 0.879 | 0.849 | 0.897170352848 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/C | rs937899757 |
-1.641 | 1.0 | D | 0.879 | 0.849 | 0.897170352848 | gnomAD-4.0.0 | 4.34204E-06 | None | None | None | None | N | None | 1.33701E-05 | 0 | None | 0 | 2.23524E-05 | None | 0 | 1.64853E-04 | 3.39324E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9984 | likely_pathogenic | 0.9971 | pathogenic | -3.734 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| Y/C | 0.9654 | likely_pathogenic | 0.9317 | pathogenic | -1.907 | Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.644458261 | None | None | N |
| Y/D | 0.9974 | likely_pathogenic | 0.9964 | pathogenic | -3.849 | Highly Destabilizing | 1.0 | D | 0.923 | deleterious | D | 0.644660065 | None | None | N |
| Y/E | 0.9994 | likely_pathogenic | 0.9991 | pathogenic | -3.643 | Highly Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| Y/F | 0.2596 | likely_benign | 0.1926 | benign | -1.608 | Destabilizing | 0.999 | D | 0.649 | neutral | D | 0.546072246 | None | None | N |
| Y/G | 0.9954 | likely_pathogenic | 0.9925 | pathogenic | -4.107 | Highly Destabilizing | 1.0 | D | 0.935 | deleterious | None | None | None | None | N |
| Y/H | 0.986 | likely_pathogenic | 0.9745 | pathogenic | -2.788 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.644054652 | None | None | N |
| Y/I | 0.986 | likely_pathogenic | 0.977 | pathogenic | -2.45 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| Y/K | 0.9992 | likely_pathogenic | 0.9986 | pathogenic | -2.561 | Highly Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | N |
| Y/L | 0.9695 | likely_pathogenic | 0.9602 | pathogenic | -2.45 | Highly Destabilizing | 0.999 | D | 0.753 | deleterious | None | None | None | None | N |
| Y/M | 0.9895 | likely_pathogenic | 0.9822 | pathogenic | -2.072 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| Y/N | 0.9829 | likely_pathogenic | 0.9715 | pathogenic | -3.278 | Highly Destabilizing | 1.0 | D | 0.906 | deleterious | D | 0.644458261 | None | None | N |
| Y/P | 0.9996 | likely_pathogenic | 0.9992 | pathogenic | -2.899 | Highly Destabilizing | 1.0 | D | 0.947 | deleterious | None | None | None | None | N |
| Y/Q | 0.9991 | likely_pathogenic | 0.9984 | pathogenic | -3.042 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| Y/R | 0.9969 | likely_pathogenic | 0.9949 | pathogenic | -2.288 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| Y/S | 0.9946 | likely_pathogenic | 0.9899 | pathogenic | -3.57 | Highly Destabilizing | 1.0 | D | 0.916 | deleterious | D | 0.6284389 | None | None | N |
| Y/T | 0.9981 | likely_pathogenic | 0.9964 | pathogenic | -3.257 | Highly Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| Y/V | 0.9768 | likely_pathogenic | 0.9631 | pathogenic | -2.899 | Highly Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| Y/W | 0.8174 | likely_pathogenic | 0.7788 | pathogenic | -0.809 | Destabilizing | 1.0 | D | 0.8 | 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.