Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23561 | 70906;70907;70908 | chr2:178575451;178575450;178575449 | chr2:179440178;179440177;179440176 |
| N2AB | 21920 | 65983;65984;65985 | chr2:178575451;178575450;178575449 | chr2:179440178;179440177;179440176 |
| N2A | 20993 | 63202;63203;63204 | chr2:178575451;178575450;178575449 | chr2:179440178;179440177;179440176 |
| N2B | 14496 | 43711;43712;43713 | chr2:178575451;178575450;178575449 | chr2:179440178;179440177;179440176 |
| Novex-1 | 14621 | 44086;44087;44088 | chr2:178575451;178575450;178575449 | chr2:179440178;179440177;179440176 |
| Novex-2 | 14688 | 44287;44288;44289 | chr2:178575451;178575450;178575449 | chr2:179440178;179440177;179440176 |
| 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/D | rs1389317118  |
-0.458 | 1.0 | D | 0.693 | 0.67 | 0.453214075403 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/D | rs1389317118 |
-0.458 | 1.0 | D | 0.693 | 0.67 | 0.453214075403 | gnomAD-4.0.0 | 3.18353E-06 | None | None | None | None | I | None | 0 | 2.28676E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43299E-05 | 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 | 0.881 | likely_pathogenic | 0.8763 | pathogenic | -0.305 | Destabilizing | 1.0 | D | 0.625 | neutral | N | 0.499678754 | None | None | I |
| G/C | 0.9532 | likely_pathogenic | 0.9474 | pathogenic | -0.976 | Destabilizing | 1.0 | D | 0.8 | deleterious | D | 0.54333323 | None | None | I |
| G/D | 0.9833 | likely_pathogenic | 0.9789 | pathogenic | -0.532 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | D | 0.524379601 | None | None | I |
| G/E | 0.9879 | likely_pathogenic | 0.9864 | pathogenic | -0.675 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| G/F | 0.9869 | likely_pathogenic | 0.9854 | pathogenic | -1.027 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| G/H | 0.9894 | likely_pathogenic | 0.987 | pathogenic | -0.346 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| G/I | 0.9831 | likely_pathogenic | 0.9807 | pathogenic | -0.566 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/K | 0.9895 | likely_pathogenic | 0.9874 | pathogenic | -0.562 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| G/L | 0.984 | likely_pathogenic | 0.9818 | pathogenic | -0.566 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/M | 0.9914 | likely_pathogenic | 0.9903 | pathogenic | -0.673 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/N | 0.9719 | likely_pathogenic | 0.9663 | pathogenic | -0.321 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | I |
| G/P | 0.9973 | likely_pathogenic | 0.9972 | pathogenic | -0.458 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/Q | 0.9853 | likely_pathogenic | 0.9823 | pathogenic | -0.556 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/R | 0.969 | likely_pathogenic | 0.9631 | pathogenic | -0.2 | Destabilizing | 1.0 | D | 0.793 | deleterious | N | 0.5153407 | None | None | I |
| G/S | 0.8036 | likely_pathogenic | 0.7822 | pathogenic | -0.486 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.508401713 | None | None | I |
| G/T | 0.9669 | likely_pathogenic | 0.9624 | pathogenic | -0.566 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/V | 0.9758 | likely_pathogenic | 0.9719 | pathogenic | -0.458 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.550081179 | None | None | I |
| G/W | 0.9845 | likely_pathogenic | 0.9818 | pathogenic | -1.099 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| G/Y | 0.9843 | likely_pathogenic | 0.9834 | pathogenic | -0.816 | Destabilizing | 1.0 | D | 0.776 | 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.