Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6346 | 19261;19262;19263 | chr2:178729002;178729001;178729000 | chr2:179593729;179593728;179593727 |
| N2AB | 6029 | 18310;18311;18312 | chr2:178729002;178729001;178729000 | chr2:179593729;179593728;179593727 |
| N2A | 5102 | 15529;15530;15531 | chr2:178729002;178729001;178729000 | chr2:179593729;179593728;179593727 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/M | rs537966944  |
-0.602 | 0.942 | D | 0.641 | 0.313 | None | gnomAD-2.1.1 | 2.51E-05 | None | None | None | None | N | None | 8.29E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.94E-05 | 0 |
| V/M | rs537966944 |
-0.602 | 0.942 | D | 0.641 | 0.313 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| V/M | rs537966944 |
-0.602 | 0.942 | D | 0.641 | 0.313 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| V/M | rs537966944 |
-0.602 | 0.942 | D | 0.641 | 0.313 | None | gnomAD-4.0.0 | 3.40967E-05 | None | None | None | None | N | None | 3.99936E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 4.40866E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1384 | likely_benign | 0.1364 | benign | -1.443 | Destabilizing | 0.822 | D | 0.505 | neutral | N | 0.499655981 | None | None | N |
| V/C | 0.6565 | likely_pathogenic | 0.6619 | pathogenic | -1.271 | Destabilizing | 0.998 | D | 0.722 | prob.delet. | None | None | None | None | N |
| V/D | 0.2922 | likely_benign | 0.2772 | benign | -1.103 | Destabilizing | 0.993 | D | 0.819 | deleterious | None | None | None | None | N |
| V/E | 0.1903 | likely_benign | 0.1829 | benign | -1.097 | Destabilizing | 0.99 | D | 0.772 | deleterious | D | 0.523570482 | None | None | N |
| V/F | 0.1314 | likely_benign | 0.1216 | benign | -1.253 | Destabilizing | 0.956 | D | 0.751 | deleterious | None | None | None | None | N |
| V/G | 0.2275 | likely_benign | 0.2234 | benign | -1.742 | Destabilizing | 0.971 | D | 0.787 | deleterious | N | 0.498637539 | None | None | N |
| V/H | 0.3535 | ambiguous | 0.343 | ambiguous | -1.265 | Destabilizing | 0.998 | D | 0.78 | deleterious | None | None | None | None | N |
| V/I | 0.0673 | likely_benign | 0.0656 | benign | -0.723 | Destabilizing | 0.019 | N | 0.352 | neutral | None | None | None | None | N |
| V/K | 0.1742 | likely_benign | 0.1818 | benign | -0.952 | Destabilizing | 0.978 | D | 0.775 | deleterious | None | None | None | None | N |
| V/L | 0.1455 | likely_benign | 0.15 | benign | -0.723 | Destabilizing | 0.014 | N | 0.304 | neutral | N | 0.481489274 | None | None | N |
| V/M | 0.0908 | likely_benign | 0.0894 | benign | -0.718 | Destabilizing | 0.942 | D | 0.641 | neutral | D | 0.532288753 | None | None | N |
| V/N | 0.1955 | likely_benign | 0.1941 | benign | -0.818 | Destabilizing | 0.993 | D | 0.809 | deleterious | None | None | None | None | N |
| V/P | 0.8788 | likely_pathogenic | 0.9091 | pathogenic | -0.929 | Destabilizing | 0.993 | D | 0.795 | deleterious | None | None | None | None | N |
| V/Q | 0.1929 | likely_benign | 0.192 | benign | -1.002 | Destabilizing | 0.993 | D | 0.784 | deleterious | None | None | None | None | N |
| V/R | 0.1706 | likely_benign | 0.1712 | benign | -0.541 | Destabilizing | 0.993 | D | 0.809 | deleterious | None | None | None | None | N |
| V/S | 0.1685 | likely_benign | 0.1652 | benign | -1.422 | Destabilizing | 0.978 | D | 0.759 | deleterious | None | None | None | None | N |
| V/T | 0.1151 | likely_benign | 0.1124 | benign | -1.301 | Destabilizing | 0.86 | D | 0.565 | neutral | None | None | None | None | N |
| V/W | 0.6767 | likely_pathogenic | 0.6525 | pathogenic | -1.382 | Destabilizing | 0.998 | D | 0.744 | deleterious | None | None | None | None | N |
| V/Y | 0.4068 | ambiguous | 0.4026 | ambiguous | -1.052 | Destabilizing | 0.978 | D | 0.76 | 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.