Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23647 | 71164;71165;71166 | chr2:178575193;178575192;178575191 | chr2:179439920;179439919;179439918 |
| N2AB | 22006 | 66241;66242;66243 | chr2:178575193;178575192;178575191 | chr2:179439920;179439919;179439918 |
| N2A | 21079 | 63460;63461;63462 | chr2:178575193;178575192;178575191 | chr2:179439920;179439919;179439918 |
| N2B | 14582 | 43969;43970;43971 | chr2:178575193;178575192;178575191 | chr2:179439920;179439919;179439918 |
| Novex-1 | 14707 | 44344;44345;44346 | chr2:178575193;178575192;178575191 | chr2:179439920;179439919;179439918 |
| Novex-2 | 14774 | 44545;44546;44547 | chr2:178575193;178575192;178575191 | chr2:179439920;179439919;179439918 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs1447481220  |
-0.712 | 1.0 | N | 0.697 | 0.282 | 0.239901079897 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.29E-05 | None | 0 | 0 | 0 |
| A/T | rs1447481220 |
-0.712 | 1.0 | N | 0.697 | 0.282 | 0.239901079897 | gnomAD-4.0.0 | 2.05403E-06 | None | None | None | None | N | None | 2.98882E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16104E-05 | 1.65772E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7306 | likely_pathogenic | 0.7152 | pathogenic | -0.721 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| A/D | 0.8561 | likely_pathogenic | 0.8272 | pathogenic | -1.104 | Destabilizing | 1.0 | D | 0.774 | deleterious | N | 0.51127511 | None | None | N |
| A/E | 0.6713 | likely_pathogenic | 0.6169 | pathogenic | -1.258 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| A/F | 0.781 | likely_pathogenic | 0.7241 | pathogenic | -1.187 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| A/G | 0.3202 | likely_benign | 0.293 | benign | -0.679 | Destabilizing | 1.0 | D | 0.523 | neutral | N | 0.48833268 | None | None | N |
| A/H | 0.8189 | likely_pathogenic | 0.7825 | pathogenic | -0.727 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| A/I | 0.5652 | likely_pathogenic | 0.5183 | ambiguous | -0.55 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| A/K | 0.7375 | likely_pathogenic | 0.6617 | pathogenic | -0.929 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| A/L | 0.5829 | likely_pathogenic | 0.5353 | ambiguous | -0.55 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| A/M | 0.5327 | ambiguous | 0.4888 | ambiguous | -0.319 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| A/N | 0.6932 | likely_pathogenic | 0.6476 | pathogenic | -0.531 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| A/P | 0.8945 | likely_pathogenic | 0.8829 | pathogenic | -0.529 | Destabilizing | 1.0 | D | 0.749 | deleterious | N | 0.452831732 | None | None | N |
| A/Q | 0.6286 | likely_pathogenic | 0.5694 | pathogenic | -0.895 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| A/R | 0.6729 | likely_pathogenic | 0.5837 | pathogenic | -0.344 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| A/S | 0.169 | likely_benign | 0.1639 | benign | -0.696 | Destabilizing | 1.0 | D | 0.543 | neutral | N | 0.512101829 | None | None | N |
| A/T | 0.291 | likely_benign | 0.2505 | benign | -0.788 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | N | 0.514891418 | None | None | N |
| A/V | 0.2518 | likely_benign | 0.2248 | benign | -0.529 | Destabilizing | 1.0 | D | 0.624 | neutral | N | 0.453013453 | None | None | N |
| A/W | 0.9639 | likely_pathogenic | 0.9528 | pathogenic | -1.321 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| A/Y | 0.8388 | likely_pathogenic | 0.8065 | pathogenic | -0.993 | Destabilizing | 1.0 | D | 0.785 | 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.