Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14570 | 43933;43934;43935 | chr2:178632186;178632185;178632184 | chr2:179496913;179496912;179496911 |
| N2AB | 12929 | 39010;39011;39012 | chr2:178632186;178632185;178632184 | chr2:179496913;179496912;179496911 |
| N2A | 12002 | 36229;36230;36231 | chr2:178632186;178632185;178632184 | chr2:179496913;179496912;179496911 |
| N2B | 5505 | 16738;16739;16740 | chr2:178632186;178632185;178632184 | chr2:179496913;179496912;179496911 |
| Novex-1 | 5630 | 17113;17114;17115 | chr2:178632186;178632185;178632184 | chr2:179496913;179496912;179496911 |
| Novex-2 | 5697 | 17314;17315;17316 | chr2:178632186;178632185;178632184 | chr2:179496913;179496912;179496911 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | None | None | 1.0 | D | 0.555 | 0.636 | 0.687538048876 | gnomAD-4.0.0 | 1.60394E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.87806E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8869 | likely_pathogenic | 0.8537 | pathogenic | -1.146 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| A/D | 0.9635 | likely_pathogenic | 0.9566 | pathogenic | -1.922 | Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.653920808 | None | None | N |
| A/E | 0.9597 | likely_pathogenic | 0.9549 | pathogenic | -1.77 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| A/F | 0.917 | likely_pathogenic | 0.8998 | pathogenic | -0.805 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| A/G | 0.3724 | ambiguous | 0.3399 | benign | -1.564 | Destabilizing | 1.0 | D | 0.555 | neutral | D | 0.693446635 | None | None | N |
| A/H | 0.9821 | likely_pathogenic | 0.9812 | pathogenic | -1.969 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| A/I | 0.8077 | likely_pathogenic | 0.7487 | pathogenic | 0.1 | Stabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| A/K | 0.989 | likely_pathogenic | 0.9883 | pathogenic | -1.403 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| A/L | 0.753 | likely_pathogenic | 0.7206 | pathogenic | 0.1 | Stabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| A/M | 0.8215 | likely_pathogenic | 0.8059 | pathogenic | -0.032 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| A/N | 0.942 | likely_pathogenic | 0.9339 | pathogenic | -1.478 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| A/P | 0.9818 | likely_pathogenic | 0.9804 | pathogenic | -0.255 | Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.632452364 | None | None | N |
| A/Q | 0.9713 | likely_pathogenic | 0.9696 | pathogenic | -1.352 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| A/R | 0.974 | likely_pathogenic | 0.974 | pathogenic | -1.4 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| A/S | 0.3468 | ambiguous | 0.3245 | benign | -1.935 | Destabilizing | 1.0 | D | 0.566 | neutral | D | 0.614605118 | None | None | N |
| A/T | 0.4791 | ambiguous | 0.4305 | ambiguous | -1.646 | Destabilizing | 1.0 | D | 0.744 | deleterious | D | 0.601950517 | None | None | N |
| A/V | 0.4738 | ambiguous | 0.4091 | ambiguous | -0.255 | Destabilizing | 1.0 | D | 0.621 | neutral | N | 0.512406697 | None | None | N |
| A/W | 0.993 | likely_pathogenic | 0.9917 | pathogenic | -1.473 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| A/Y | 0.9601 | likely_pathogenic | 0.9542 | pathogenic | -0.928 | Destabilizing | 1.0 | D | 0.865 | 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.