Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32447 | 97564;97565;97566 | chr2:178542417;178542416;178542415 | chr2:179407144;179407143;179407142 |
| N2AB | 30806 | 92641;92642;92643 | chr2:178542417;178542416;178542415 | chr2:179407144;179407143;179407142 |
| N2A | 29879 | 89860;89861;89862 | chr2:178542417;178542416;178542415 | chr2:179407144;179407143;179407142 |
| N2B | 23382 | 70369;70370;70371 | chr2:178542417;178542416;178542415 | chr2:179407144;179407143;179407142 |
| Novex-1 | 23507 | 70744;70745;70746 | chr2:178542417;178542416;178542415 | chr2:179407144;179407143;179407142 |
| Novex-2 | 23574 | 70945;70946;70947 | chr2:178542417;178542416;178542415 | chr2:179407144;179407143;179407142 |
| 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/C | None | None | 1.0 | D | 0.736 | 0.593 | 0.610288044756 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.75482E-04 | None | 0 | 0 | 0 | 0 | 0 |
| W/R | None | None | 1.0 | D | 0.795 | 0.601 | 0.653509219572 | gnomAD-4.0.0 | 1.5915E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85869E-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 | 0.9983 | likely_pathogenic | 0.9979 | pathogenic | -2.925 | Highly Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| W/C | 0.9988 | likely_pathogenic | 0.9985 | pathogenic | -1.292 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | D | 0.536470607 | None | None | N |
| W/D | 0.9991 | likely_pathogenic | 0.999 | pathogenic | -2.302 | Highly Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| W/E | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -2.214 | Highly Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| W/F | 0.7209 | likely_pathogenic | 0.7357 | pathogenic | -1.772 | Destabilizing | 1.0 | D | 0.611 | neutral | None | None | None | None | N |
| W/G | 0.992 | likely_pathogenic | 0.9895 | pathogenic | -3.125 | Highly Destabilizing | 1.0 | D | 0.676 | prob.neutral | D | 0.528962189 | None | None | N |
| W/H | 0.997 | likely_pathogenic | 0.9967 | pathogenic | -1.545 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| W/I | 0.9949 | likely_pathogenic | 0.9946 | pathogenic | -2.179 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| W/K | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.79 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| W/L | 0.9896 | likely_pathogenic | 0.9882 | pathogenic | -2.179 | Highly Destabilizing | 1.0 | D | 0.676 | prob.neutral | D | 0.545545507 | None | None | N |
| W/M | 0.9971 | likely_pathogenic | 0.9967 | pathogenic | -1.586 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| W/N | 0.9988 | likely_pathogenic | 0.9986 | pathogenic | -2.284 | Highly Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| W/P | 0.9986 | likely_pathogenic | 0.9985 | pathogenic | -2.449 | Highly Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| W/Q | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -2.251 | Highly Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| W/R | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -1.293 | Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.53520316 | None | None | N |
| W/S | 0.9958 | likely_pathogenic | 0.9944 | pathogenic | -2.591 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.53494967 | None | None | N |
| W/T | 0.9978 | likely_pathogenic | 0.9976 | pathogenic | -2.455 | Highly Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| W/V | 0.9959 | likely_pathogenic | 0.9953 | pathogenic | -2.449 | Highly Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| W/Y | 0.9361 | likely_pathogenic | 0.9291 | pathogenic | -1.565 | Destabilizing | 1.0 | D | 0.597 | 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.