Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20553 | 61882;61883;61884 | chr2:178590068;178590067;178590066 | chr2:179454795;179454794;179454793 |
| N2AB | 18912 | 56959;56960;56961 | chr2:178590068;178590067;178590066 | chr2:179454795;179454794;179454793 |
| N2A | 17985 | 54178;54179;54180 | chr2:178590068;178590067;178590066 | chr2:179454795;179454794;179454793 |
| N2B | 11488 | 34687;34688;34689 | chr2:178590068;178590067;178590066 | chr2:179454795;179454794;179454793 |
| Novex-1 | 11613 | 35062;35063;35064 | chr2:178590068;178590067;178590066 | chr2:179454795;179454794;179454793 |
| Novex-2 | 11680 | 35263;35264;35265 | chr2:178590068;178590067;178590066 | chr2:179454795;179454794;179454793 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/I | None | None | 1.0 | D | 0.731 | 0.728 | 0.660135772981 | gnomAD-4.0.0 | 1.59256E-06 | None | None | None | None | N | None | 0 | 0 | None | 4.77236E-05 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/K | rs1009639599  |
-0.136 | 1.0 | D | 0.745 | 0.622 | 0.252162846088 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| N/K | rs1009639599 |
-0.136 | 1.0 | D | 0.745 | 0.622 | 0.252162846088 | gnomAD-4.0.0 | 6.8445E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99672E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9913 | likely_pathogenic | 0.9945 | pathogenic | -0.407 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| N/C | 0.9399 | likely_pathogenic | 0.9574 | pathogenic | 0.184 | Stabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| N/D | 0.9783 | likely_pathogenic | 0.988 | pathogenic | -1.221 | Destabilizing | 0.999 | D | 0.625 | neutral | D | 0.545017253 | None | None | N |
| N/E | 0.9972 | likely_pathogenic | 0.9986 | pathogenic | -1.197 | Destabilizing | 0.999 | D | 0.729 | prob.delet. | None | None | None | None | N |
| N/F | 0.9985 | likely_pathogenic | 0.9992 | pathogenic | -0.686 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| N/G | 0.9806 | likely_pathogenic | 0.9884 | pathogenic | -0.647 | Destabilizing | 0.999 | D | 0.573 | neutral | None | None | None | None | N |
| N/H | 0.9751 | likely_pathogenic | 0.9856 | pathogenic | -0.772 | Destabilizing | 1.0 | D | 0.754 | deleterious | D | 0.534928396 | None | None | N |
| N/I | 0.9832 | likely_pathogenic | 0.9915 | pathogenic | 0.159 | Stabilizing | 1.0 | D | 0.731 | prob.delet. | D | 0.54653819 | None | None | N |
| N/K | 0.9983 | likely_pathogenic | 0.9992 | pathogenic | -0.092 | Destabilizing | 1.0 | D | 0.745 | deleterious | D | 0.534421416 | None | None | N |
| N/L | 0.9805 | likely_pathogenic | 0.9881 | pathogenic | 0.159 | Stabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| N/M | 0.9882 | likely_pathogenic | 0.9927 | pathogenic | 0.831 | Stabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| N/P | 0.9982 | likely_pathogenic | 0.9989 | pathogenic | -0.002 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| N/Q | 0.9972 | likely_pathogenic | 0.9984 | pathogenic | -0.942 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| N/R | 0.9977 | likely_pathogenic | 0.9987 | pathogenic | 0.034 | Stabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| N/S | 0.8343 | likely_pathogenic | 0.872 | pathogenic | -0.524 | Destabilizing | 0.999 | D | 0.589 | neutral | N | 0.488044689 | None | None | N |
| N/T | 0.9326 | likely_pathogenic | 0.9546 | pathogenic | -0.358 | Destabilizing | 0.999 | D | 0.718 | prob.delet. | N | 0.518772697 | None | None | N |
| N/V | 0.9812 | likely_pathogenic | 0.9896 | pathogenic | -0.002 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| N/W | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -0.613 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| N/Y | 0.9857 | likely_pathogenic | 0.9921 | pathogenic | -0.289 | Destabilizing | 1.0 | D | 0.743 | deleterious | D | 0.546284701 | 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.