Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21442 | 64549;64550;64551 | chr2:178586577;178586576;178586575 | chr2:179451304;179451303;179451302 |
| N2AB | 19801 | 59626;59627;59628 | chr2:178586577;178586576;178586575 | chr2:179451304;179451303;179451302 |
| N2A | 18874 | 56845;56846;56847 | chr2:178586577;178586576;178586575 | chr2:179451304;179451303;179451302 |
| N2B | 12377 | 37354;37355;37356 | chr2:178586577;178586576;178586575 | chr2:179451304;179451303;179451302 |
| Novex-1 | 12502 | 37729;37730;37731 | chr2:178586577;178586576;178586575 | chr2:179451304;179451303;179451302 |
| Novex-2 | 12569 | 37930;37931;37932 | chr2:178586577;178586576;178586575 | chr2:179451304;179451303;179451302 |
| 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/T | rs886042279  |
-1.621 | 0.716 | N | 0.59 | 0.221 | 0.426787303895 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65893E-04 |
| A/T | rs886042279 |
-1.621 | 0.716 | N | 0.59 | 0.221 | 0.426787303895 | gnomAD-4.0.0 | 3.18522E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43308E-05 | 3.0259E-05 |
| A/V | rs769108408 |
-0.156 | 0.081 | N | 0.36 | 0.081 | None | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| A/V | rs769108408 |
-0.156 | 0.081 | N | 0.36 | 0.081 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 4.83E-05 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/V | rs769108408 |
-0.156 | 0.081 | N | 0.36 | 0.081 | None | gnomAD-4.0.0 | 1.92188E-05 | None | None | None | None | N | None | 4.00727E-05 | 1.66806E-05 | None | 0 | 0 | None | 0 | 0 | 2.03496E-05 | 0 | 4.80523E-05 |
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 | 0.4024 | ambiguous | 0.4464 | ambiguous | -1.488 | Destabilizing | 0.994 | D | 0.737 | prob.delet. | None | None | None | None | N |
| A/D | 0.8761 | likely_pathogenic | 0.8734 | pathogenic | -2.8 | Highly Destabilizing | 0.979 | D | 0.776 | deleterious | None | None | None | None | N |
| A/E | 0.6239 | likely_pathogenic | 0.6187 | pathogenic | -2.578 | Highly Destabilizing | 0.989 | D | 0.725 | prob.delet. | N | 0.492030707 | None | None | N |
| A/F | 0.462 | ambiguous | 0.505 | ambiguous | -0.752 | Destabilizing | 0.959 | D | 0.82 | deleterious | None | None | None | None | N |
| A/G | 0.3082 | likely_benign | 0.3032 | benign | -1.827 | Destabilizing | 0.963 | D | 0.611 | neutral | N | 0.494058623 | None | None | N |
| A/H | 0.7039 | likely_pathogenic | 0.7229 | pathogenic | -2.189 | Highly Destabilizing | 0.998 | D | 0.787 | deleterious | None | None | None | None | N |
| A/I | 0.4272 | ambiguous | 0.4776 | ambiguous | -0.048 | Destabilizing | 0.535 | D | 0.667 | neutral | None | None | None | None | N |
| A/K | 0.7813 | likely_pathogenic | 0.7888 | pathogenic | -1.366 | Destabilizing | 0.979 | D | 0.719 | prob.delet. | None | None | None | None | N |
| A/L | 0.2974 | likely_benign | 0.3521 | ambiguous | -0.048 | Destabilizing | 0.769 | D | 0.652 | neutral | None | None | None | None | N |
| A/M | 0.2608 | likely_benign | 0.32 | benign | -0.485 | Destabilizing | 0.989 | D | 0.758 | deleterious | None | None | None | None | N |
| A/N | 0.67 | likely_pathogenic | 0.702 | pathogenic | -1.773 | Destabilizing | 0.993 | D | 0.82 | deleterious | None | None | None | None | N |
| A/P | 0.9923 | likely_pathogenic | 0.9932 | pathogenic | -0.442 | Destabilizing | 0.991 | D | 0.756 | deleterious | N | 0.494312113 | None | None | N |
| A/Q | 0.494 | ambiguous | 0.5176 | ambiguous | -1.533 | Destabilizing | 0.993 | D | 0.793 | deleterious | None | None | None | None | N |
| A/R | 0.6887 | likely_pathogenic | 0.7048 | pathogenic | -1.485 | Destabilizing | 0.979 | D | 0.774 | deleterious | None | None | None | None | N |
| A/S | 0.1212 | likely_benign | 0.1262 | benign | -2.139 | Highly Destabilizing | 0.834 | D | 0.599 | neutral | N | 0.453566105 | None | None | N |
| A/T | 0.1582 | likely_benign | 0.1872 | benign | -1.796 | Destabilizing | 0.716 | D | 0.59 | neutral | N | 0.482328788 | None | None | N |
| A/V | 0.2283 | likely_benign | 0.2631 | benign | -0.442 | Destabilizing | 0.081 | N | 0.36 | neutral | N | 0.486446528 | None | None | N |
| A/W | 0.8713 | likely_pathogenic | 0.8742 | pathogenic | -1.545 | Destabilizing | 0.998 | D | 0.797 | deleterious | None | None | None | None | N |
| A/Y | 0.6573 | likely_pathogenic | 0.6703 | pathogenic | -1.039 | Destabilizing | 0.979 | D | 0.815 | 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.