Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6699 | 20320;20321;20322 | chr2:178727270;178727269;178727268 | chr2:179591997;179591996;179591995 |
| N2AB | 6382 | 19369;19370;19371 | chr2:178727270;178727269;178727268 | chr2:179591997;179591996;179591995 |
| N2A | 5455 | 16588;16589;16590 | chr2:178727270;178727269;178727268 | chr2:179591997;179591996;179591995 |
| 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/A | rs907862282  |
-1.795 | 0.714 | D | 0.625 | 0.62 | 0.721550138732 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.67429E-04 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs907862282 |
-1.795 | 0.714 | D | 0.625 | 0.62 | 0.721550138732 | gnomAD-4.0.0 | 2.73795E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 7.56544E-05 | None | 0 | 0 | 8.99743E-07 | 0 | 0 |
| V/D | rs907862282 |
-2.121 | 0.997 | D | 0.829 | 0.763 | 0.911773092726 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 1.14969E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/D | rs907862282 |
-2.121 | 0.997 | D | 0.829 | 0.763 | 0.911773092726 | gnomAD-3.1.2 | 1.98E-05 | None | None | None | None | I | None | 7.25E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/D | rs907862282 |
-2.121 | 0.997 | D | 0.829 | 0.763 | 0.911773092726 | gnomAD-4.0.0 | 3.72015E-06 | None | None | None | None | I | None | 8.02096E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | None | None | 0.001 | N | 0.259 | 0.215 | 0.52090908611 | gnomAD-4.0.0 | 1.59282E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86105E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3514 | ambiguous | 0.3591 | ambiguous | -1.716 | Destabilizing | 0.714 | D | 0.625 | neutral | D | 0.585229504 | None | None | I |
| V/C | 0.9423 | likely_pathogenic | 0.9329 | pathogenic | -1.047 | Destabilizing | 0.998 | D | 0.717 | prob.delet. | None | None | None | None | I |
| V/D | 0.9752 | likely_pathogenic | 0.9759 | pathogenic | -2.116 | Highly Destabilizing | 0.997 | D | 0.829 | deleterious | D | 0.623617034 | None | None | I |
| V/E | 0.944 | likely_pathogenic | 0.9451 | pathogenic | -1.972 | Destabilizing | 0.986 | D | 0.795 | deleterious | None | None | None | None | I |
| V/F | 0.6047 | likely_pathogenic | 0.6023 | pathogenic | -1.065 | Destabilizing | 0.075 | N | 0.517 | neutral | D | 0.548577849 | None | None | I |
| V/G | 0.6602 | likely_pathogenic | 0.6502 | pathogenic | -2.163 | Highly Destabilizing | 0.993 | D | 0.8 | deleterious | D | 0.623617034 | None | None | I |
| V/H | 0.9832 | likely_pathogenic | 0.9819 | pathogenic | -1.844 | Destabilizing | 0.999 | D | 0.819 | deleterious | None | None | None | None | I |
| V/I | 0.1095 | likely_benign | 0.1112 | benign | -0.512 | Destabilizing | 0.001 | N | 0.259 | neutral | N | 0.476923834 | None | None | I |
| V/K | 0.9626 | likely_pathogenic | 0.9636 | pathogenic | -1.539 | Destabilizing | 0.98 | D | 0.791 | deleterious | None | None | None | None | I |
| V/L | 0.5526 | ambiguous | 0.5667 | pathogenic | -0.512 | Destabilizing | 0.078 | N | 0.486 | neutral | D | 0.532074517 | None | None | I |
| V/M | 0.4314 | ambiguous | 0.4301 | ambiguous | -0.387 | Destabilizing | 0.489 | N | 0.526 | neutral | None | None | None | None | I |
| V/N | 0.9392 | likely_pathogenic | 0.9363 | pathogenic | -1.609 | Destabilizing | 0.957 | D | 0.831 | deleterious | None | None | None | None | I |
| V/P | 0.8811 | likely_pathogenic | 0.874 | pathogenic | -0.884 | Destabilizing | 0.957 | D | 0.827 | deleterious | None | None | None | None | I |
| V/Q | 0.9502 | likely_pathogenic | 0.9476 | pathogenic | -1.581 | Destabilizing | 0.972 | D | 0.821 | deleterious | None | None | None | None | I |
| V/R | 0.942 | likely_pathogenic | 0.9442 | pathogenic | -1.233 | Destabilizing | 0.991 | D | 0.83 | deleterious | None | None | None | None | I |
| V/S | 0.7376 | likely_pathogenic | 0.7291 | pathogenic | -2.139 | Highly Destabilizing | 0.983 | D | 0.795 | deleterious | None | None | None | None | I |
| V/T | 0.3874 | ambiguous | 0.3808 | ambiguous | -1.869 | Destabilizing | 0.764 | D | 0.634 | neutral | None | None | None | None | I |
| V/W | 0.9857 | likely_pathogenic | 0.9839 | pathogenic | -1.506 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| V/Y | 0.9478 | likely_pathogenic | 0.9429 | pathogenic | -1.112 | Destabilizing | 0.963 | D | 0.73 | prob.delet. | None | None | None | None | I |
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.