Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21375 | 64348;64349;64350 | chr2:178586778;178586777;178586776 | chr2:179451505;179451504;179451503 |
| N2AB | 19734 | 59425;59426;59427 | chr2:178586778;178586777;178586776 | chr2:179451505;179451504;179451503 |
| N2A | 18807 | 56644;56645;56646 | chr2:178586778;178586777;178586776 | chr2:179451505;179451504;179451503 |
| N2B | 12310 | 37153;37154;37155 | chr2:178586778;178586777;178586776 | chr2:179451505;179451504;179451503 |
| Novex-1 | 12435 | 37528;37529;37530 | chr2:178586778;178586777;178586776 | chr2:179451505;179451504;179451503 |
| Novex-2 | 12502 | 37729;37730;37731 | chr2:178586778;178586777;178586776 | chr2:179451505;179451504;179451503 |
| 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/L | rs371670651  |
None | 0.997 | N | 0.611 | 0.43 | 0.509762279564 | gnomAD-4.0.0 | 6.84636E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99873E-07 | 0 | 0 |
| V/M | rs371670651 |
-0.583 | 1.0 | N | 0.775 | 0.466 | None | gnomAD-2.1.1 | 2.82E-05 | None | None | None | None | N | None | 6.47E-05 | 1.16293E-04 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| V/M | rs371670651 |
-0.583 | 1.0 | N | 0.775 | 0.466 | None | gnomAD-3.1.2 | 7.23E-05 | None | None | None | None | N | None | 4.83E-05 | 3.93185E-04 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| V/M | rs371670651 |
-0.583 | 1.0 | N | 0.775 | 0.466 | None | gnomAD-4.0.0 | 2.1083E-05 | None | None | None | None | N | None | 2.67244E-05 | 1.66917E-04 | None | 0 | 0 | None | 0 | 0 | 1.69602E-05 | 0 | 3.20533E-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 | 0.7413 | likely_pathogenic | 0.6376 | pathogenic | -1.861 | Destabilizing | 0.999 | D | 0.615 | neutral | N | 0.512921053 | None | None | N |
| V/C | 0.9401 | likely_pathogenic | 0.9124 | pathogenic | -1.416 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| V/D | 0.9757 | likely_pathogenic | 0.9592 | pathogenic | -1.901 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| V/E | 0.9618 | likely_pathogenic | 0.936 | pathogenic | -1.744 | Destabilizing | 1.0 | D | 0.894 | deleterious | D | 0.524652181 | None | None | N |
| V/F | 0.7311 | likely_pathogenic | 0.6181 | pathogenic | -1.196 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| V/G | 0.8121 | likely_pathogenic | 0.736 | pathogenic | -2.348 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | N | 0.512281918 | None | None | N |
| V/H | 0.9896 | likely_pathogenic | 0.9812 | pathogenic | -1.938 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| V/I | 0.0982 | likely_benign | 0.0906 | benign | -0.54 | Destabilizing | 0.998 | D | 0.589 | neutral | None | None | None | None | N |
| V/K | 0.9753 | likely_pathogenic | 0.9578 | pathogenic | -1.476 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| V/L | 0.6092 | likely_pathogenic | 0.4876 | ambiguous | -0.54 | Destabilizing | 0.997 | D | 0.611 | neutral | N | 0.510787612 | None | None | N |
| V/M | 0.5776 | likely_pathogenic | 0.4856 | ambiguous | -0.532 | Destabilizing | 1.0 | D | 0.775 | deleterious | N | 0.498950603 | None | None | N |
| V/N | 0.9396 | likely_pathogenic | 0.9057 | pathogenic | -1.581 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| V/P | 0.8524 | likely_pathogenic | 0.8053 | pathogenic | -0.949 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| V/Q | 0.9747 | likely_pathogenic | 0.9568 | pathogenic | -1.515 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| V/R | 0.9701 | likely_pathogenic | 0.9508 | pathogenic | -1.235 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| V/S | 0.9214 | likely_pathogenic | 0.8724 | pathogenic | -2.237 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| V/T | 0.8467 | likely_pathogenic | 0.7838 | pathogenic | -1.927 | Destabilizing | 0.999 | D | 0.706 | prob.neutral | None | None | None | None | N |
| V/W | 0.9877 | likely_pathogenic | 0.9765 | pathogenic | -1.542 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| V/Y | 0.9571 | likely_pathogenic | 0.9215 | pathogenic | -1.183 | Destabilizing | 1.0 | D | 0.862 | 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.