Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29265 | 88018;88019;88020 | chr2:178557469;178557468;178557467 | chr2:179422196;179422195;179422194 |
| N2AB | 27624 | 83095;83096;83097 | chr2:178557469;178557468;178557467 | chr2:179422196;179422195;179422194 |
| N2A | 26697 | 80314;80315;80316 | chr2:178557469;178557468;178557467 | chr2:179422196;179422195;179422194 |
| N2B | 20200 | 60823;60824;60825 | chr2:178557469;178557468;178557467 | chr2:179422196;179422195;179422194 |
| Novex-1 | 20325 | 61198;61199;61200 | chr2:178557469;178557468;178557467 | chr2:179422196;179422195;179422194 |
| Novex-2 | 20392 | 61399;61400;61401 | chr2:178557469;178557468;178557467 | chr2:179422196;179422195;179422194 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | None | None | 1.0 | N | 0.871 | 0.687 | 0.628485069305 | gnomAD-4.0.0 | 1.59107E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85776E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8816 | likely_pathogenic | 0.9344 | pathogenic | -0.073 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | N | 0.518097453 | None | None | I |
| G/C | 0.9543 | likely_pathogenic | 0.9812 | pathogenic | -0.742 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/D | 0.9818 | likely_pathogenic | 0.9937 | pathogenic | -0.304 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/E | 0.9896 | likely_pathogenic | 0.9954 | pathogenic | -0.469 | Destabilizing | 1.0 | D | 0.871 | deleterious | N | 0.521375909 | None | None | I |
| G/F | 0.995 | likely_pathogenic | 0.9978 | pathogenic | -0.934 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/H | 0.9891 | likely_pathogenic | 0.9966 | pathogenic | -0.304 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/I | 0.9956 | likely_pathogenic | 0.9976 | pathogenic | -0.329 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/K | 0.9921 | likely_pathogenic | 0.9964 | pathogenic | -0.35 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | I |
| G/L | 0.9926 | likely_pathogenic | 0.9968 | pathogenic | -0.329 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | I |
| G/M | 0.9963 | likely_pathogenic | 0.9985 | pathogenic | -0.327 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/N | 0.9712 | likely_pathogenic | 0.9929 | pathogenic | -0.091 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/P | 0.9989 | likely_pathogenic | 0.9993 | pathogenic | -0.216 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/Q | 0.9849 | likely_pathogenic | 0.9945 | pathogenic | -0.372 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | I |
| G/R | 0.9698 | likely_pathogenic | 0.9868 | pathogenic | -0.005 | Destabilizing | 1.0 | D | 0.86 | deleterious | D | 0.525984265 | None | None | I |
| G/S | 0.7873 | likely_pathogenic | 0.9077 | pathogenic | -0.223 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/T | 0.9804 | likely_pathogenic | 0.9904 | pathogenic | -0.322 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | I |
| G/V | 0.9905 | likely_pathogenic | 0.995 | pathogenic | -0.216 | Destabilizing | 1.0 | D | 0.85 | deleterious | N | 0.519111411 | None | None | I |
| G/W | 0.9892 | likely_pathogenic | 0.9953 | pathogenic | -1.064 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| G/Y | 0.9903 | likely_pathogenic | 0.9965 | pathogenic | -0.694 | Destabilizing | 1.0 | D | 0.819 | deleterious | 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.