Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30371 | 91336;91337;91338 | chr2:178551789;178551788;178551787 | chr2:179416516;179416515;179416514 |
| N2AB | 28730 | 86413;86414;86415 | chr2:178551789;178551788;178551787 | chr2:179416516;179416515;179416514 |
| N2A | 27803 | 83632;83633;83634 | chr2:178551789;178551788;178551787 | chr2:179416516;179416515;179416514 |
| N2B | 21306 | 64141;64142;64143 | chr2:178551789;178551788;178551787 | chr2:179416516;179416515;179416514 |
| Novex-1 | 21431 | 64516;64517;64518 | chr2:178551789;178551788;178551787 | chr2:179416516;179416515;179416514 |
| Novex-2 | 21498 | 64717;64718;64719 | chr2:178551789;178551788;178551787 | chr2:179416516;179416515;179416514 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | None | None | 1.0 | D | 0.723 | 0.645 | 0.756967780235 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9971 | likely_pathogenic | 0.9978 | pathogenic | -3.15 | Highly Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| W/C | 0.9976 | likely_pathogenic | 0.9983 | pathogenic | -1.385 | Destabilizing | 1.0 | D | 0.663 | neutral | D | 0.529862286 | None | None | N |
| W/D | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -2.465 | Highly Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| W/E | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -2.397 | Highly Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| W/F | 0.7843 | likely_pathogenic | 0.7451 | pathogenic | -1.927 | Destabilizing | 1.0 | D | 0.64 | neutral | None | None | None | None | N |
| W/G | 0.9871 | likely_pathogenic | 0.9897 | pathogenic | -3.34 | Highly Destabilizing | 1.0 | D | 0.635 | neutral | D | 0.528848328 | None | None | N |
| W/H | 0.9937 | likely_pathogenic | 0.9944 | pathogenic | -1.738 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | N |
| W/I | 0.9945 | likely_pathogenic | 0.996 | pathogenic | -2.434 | Highly Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| W/K | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -1.837 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| W/L | 0.9695 | likely_pathogenic | 0.9756 | pathogenic | -2.434 | Highly Destabilizing | 1.0 | D | 0.635 | neutral | D | 0.534835809 | None | None | N |
| W/M | 0.996 | likely_pathogenic | 0.9967 | pathogenic | -1.796 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| W/N | 0.9988 | likely_pathogenic | 0.999 | pathogenic | -2.243 | Highly Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| W/P | 0.9979 | likely_pathogenic | 0.9978 | pathogenic | -2.693 | Highly Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| W/Q | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -2.27 | Highly Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| W/R | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | -1.209 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | D | 0.536103257 | None | None | N |
| W/S | 0.9923 | likely_pathogenic | 0.9942 | pathogenic | -2.562 | Highly Destabilizing | 1.0 | D | 0.735 | prob.delet. | N | 0.515971086 | None | None | N |
| W/T | 0.9974 | likely_pathogenic | 0.998 | pathogenic | -2.445 | Highly Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| W/V | 0.9951 | likely_pathogenic | 0.9961 | pathogenic | -2.693 | Highly Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| W/Y | 0.9124 | likely_pathogenic | 0.902 | pathogenic | -1.753 | Destabilizing | 1.0 | D | 0.599 | neutral | 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.