Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30583 | 91972;91973;91974 | chr2:178550091;178550090;178550089 | chr2:179414818;179414817;179414816 |
| N2AB | 28942 | 87049;87050;87051 | chr2:178550091;178550090;178550089 | chr2:179414818;179414817;179414816 |
| N2A | 28015 | 84268;84269;84270 | chr2:178550091;178550090;178550089 | chr2:179414818;179414817;179414816 |
| N2B | 21518 | 64777;64778;64779 | chr2:178550091;178550090;178550089 | chr2:179414818;179414817;179414816 |
| Novex-1 | 21643 | 65152;65153;65154 | chr2:178550091;178550090;178550089 | chr2:179414818;179414817;179414816 |
| Novex-2 | 21710 | 65353;65354;65355 | chr2:178550091;178550090;178550089 | chr2:179414818;179414817;179414816 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/N | rs1698731118  |
None | 0.722 | D | 0.68 | 0.226 | 0.224531998449 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | rs1698731118 |
None | 0.722 | D | 0.68 | 0.226 | 0.224531998449 | gnomAD-4.0.0 | 6.5735E-06 | None | None | None | None | N | None | 2.41406E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/T | None | None | 0.003 | N | 0.271 | 0.106 | 0.134241683229 | gnomAD-4.0.0 | 1.59129E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85837E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1011 | likely_benign | 0.1006 | benign | -0.86 | Destabilizing | 0.415 | N | 0.575 | neutral | None | None | None | None | N |
| S/C | 0.1142 | likely_benign | 0.1132 | benign | -0.85 | Destabilizing | 0.995 | D | 0.7 | prob.neutral | N | 0.499472306 | None | None | N |
| S/D | 0.7838 | likely_pathogenic | 0.7803 | pathogenic | -1.617 | Destabilizing | 0.775 | D | 0.685 | prob.neutral | None | None | None | None | N |
| S/E | 0.8069 | likely_pathogenic | 0.7888 | pathogenic | -1.436 | Destabilizing | 0.775 | D | 0.682 | prob.neutral | None | None | None | None | N |
| S/F | 0.2693 | likely_benign | 0.273 | benign | -0.738 | Destabilizing | 0.858 | D | 0.733 | prob.delet. | None | None | None | None | N |
| S/G | 0.1646 | likely_benign | 0.1648 | benign | -1.249 | Destabilizing | 0.722 | D | 0.621 | neutral | N | 0.487190948 | None | None | N |
| S/H | 0.5311 | ambiguous | 0.5089 | ambiguous | -1.648 | Destabilizing | 0.961 | D | 0.727 | prob.delet. | None | None | None | None | N |
| S/I | 0.234 | likely_benign | 0.2346 | benign | 0.119 | Stabilizing | 0.82 | D | 0.721 | prob.delet. | N | 0.471781799 | None | None | N |
| S/K | 0.9305 | likely_pathogenic | 0.9235 | pathogenic | -0.481 | Destabilizing | 0.775 | D | 0.687 | prob.neutral | None | None | None | None | N |
| S/L | 0.1435 | likely_benign | 0.1398 | benign | 0.119 | Stabilizing | 0.633 | D | 0.718 | prob.delet. | None | None | None | None | N |
| S/M | 0.1953 | likely_benign | 0.1953 | benign | 0.065 | Stabilizing | 0.989 | D | 0.713 | prob.delet. | None | None | None | None | N |
| S/N | 0.2635 | likely_benign | 0.2577 | benign | -1.189 | Destabilizing | 0.722 | D | 0.68 | prob.neutral | D | 0.526480288 | None | None | N |
| S/P | 0.9715 | likely_pathogenic | 0.9726 | pathogenic | -0.172 | Destabilizing | 0.961 | D | 0.74 | deleterious | None | None | None | None | N |
| S/Q | 0.7004 | likely_pathogenic | 0.6812 | pathogenic | -0.983 | Destabilizing | 0.961 | D | 0.75 | deleterious | None | None | None | None | N |
| S/R | 0.8828 | likely_pathogenic | 0.8705 | pathogenic | -0.808 | Destabilizing | 0.901 | D | 0.748 | deleterious | N | 0.516455296 | None | None | N |
| S/T | 0.0893 | likely_benign | 0.0904 | benign | -0.838 | Destabilizing | 0.003 | N | 0.271 | neutral | N | 0.440626599 | None | None | N |
| S/V | 0.2099 | likely_benign | 0.2111 | benign | -0.172 | Destabilizing | 0.633 | D | 0.727 | prob.delet. | None | None | None | None | N |
| S/W | 0.4954 | ambiguous | 0.4959 | ambiguous | -0.98 | Destabilizing | 0.996 | D | 0.784 | deleterious | None | None | None | None | N |
| S/Y | 0.2728 | likely_benign | 0.2638 | benign | -0.542 | Destabilizing | 0.096 | N | 0.551 | 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.