Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29208 | 87847;87848;87849 | chr2:178557732;178557731;178557730 | chr2:179422459;179422458;179422457 |
| N2AB | 27567 | 82924;82925;82926 | chr2:178557732;178557731;178557730 | chr2:179422459;179422458;179422457 |
| N2A | 26640 | 80143;80144;80145 | chr2:178557732;178557731;178557730 | chr2:179422459;179422458;179422457 |
| N2B | 20143 | 60652;60653;60654 | chr2:178557732;178557731;178557730 | chr2:179422459;179422458;179422457 |
| Novex-1 | 20268 | 61027;61028;61029 | chr2:178557732;178557731;178557730 | chr2:179422459;179422458;179422457 |
| Novex-2 | 20335 | 61228;61229;61230 | chr2:178557732;178557731;178557730 | chr2:179422459;179422458;179422457 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/F | rs201831707  |
-1.423 | 0.999 | D | 0.749 | 0.907 | None | gnomAD-2.1.1 | 1.99713E-04 | None | None | None | None | N | None | 2.47913E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.82108E-04 | 1.40213E-04 |
| Y/F | rs201831707 |
-1.423 | 0.999 | D | 0.749 | 0.907 | None | gnomAD-3.1.2 | 1.97055E-04 | None | None | None | None | N | None | 1.20563E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 3.67453E-04 | 0 | 0 |
| Y/F | rs201831707 |
-1.423 | 0.999 | D | 0.749 | 0.907 | None | gnomAD-4.0.0 | 4.99419E-04 | None | None | None | None | N | None | 1.06735E-04 | 0 | None | 0 | 0 | None | 0 | 1.64528E-04 | 6.42447E-04 | 1.09801E-05 | 6.0837E-04 |
| Y/H | rs760803535 |
-2.743 | 1.0 | D | 0.815 | 0.904 | 0.779787582023 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| Y/H | rs760803535 |
-2.743 | 1.0 | D | 0.815 | 0.904 | 0.779787582023 | gnomAD-4.0.0 | 2.73668E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79884E-06 | 1.15964E-05 | 1.65645E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.996 | likely_pathogenic | 0.9955 | pathogenic | -3.298 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| Y/C | 0.9433 | likely_pathogenic | 0.936 | pathogenic | -2.037 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | D | 0.686865774 | None | None | N |
| Y/D | 0.9955 | likely_pathogenic | 0.9959 | pathogenic | -3.381 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | D | 0.686865774 | None | None | N |
| Y/E | 0.9985 | likely_pathogenic | 0.9984 | pathogenic | -3.188 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| Y/F | 0.2916 | likely_benign | 0.2639 | benign | -1.225 | Destabilizing | 0.999 | D | 0.749 | deleterious | D | 0.629330019 | None | None | N |
| Y/G | 0.9897 | likely_pathogenic | 0.99 | pathogenic | -3.715 | Highly Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| Y/H | 0.9662 | likely_pathogenic | 0.966 | pathogenic | -2.138 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.686865774 | None | None | N |
| Y/I | 0.9594 | likely_pathogenic | 0.9515 | pathogenic | -1.918 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| Y/K | 0.998 | likely_pathogenic | 0.9975 | pathogenic | -2.333 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| Y/L | 0.9502 | likely_pathogenic | 0.949 | pathogenic | -1.918 | Destabilizing | 0.999 | D | 0.791 | deleterious | None | None | None | None | N |
| Y/M | 0.9751 | likely_pathogenic | 0.9746 | pathogenic | -1.684 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| Y/N | 0.9512 | likely_pathogenic | 0.9653 | pathogenic | -3.056 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.686663969 | None | None | N |
| Y/P | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -2.392 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| Y/Q | 0.9971 | likely_pathogenic | 0.9971 | pathogenic | -2.848 | Highly Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| Y/R | 0.9951 | likely_pathogenic | 0.9949 | pathogenic | -1.963 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| Y/S | 0.986 | likely_pathogenic | 0.9866 | pathogenic | -3.466 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | D | 0.686865774 | None | None | N |
| Y/T | 0.9932 | likely_pathogenic | 0.9934 | pathogenic | -3.155 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| Y/V | 0.9383 | likely_pathogenic | 0.9308 | pathogenic | -2.392 | Highly Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| Y/W | 0.8683 | likely_pathogenic | 0.8453 | pathogenic | -0.508 | Destabilizing | 1.0 | D | 0.791 | 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.