Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23607 | 71044;71045;71046 | chr2:178575313;178575312;178575311 | chr2:179440040;179440039;179440038 |
| N2AB | 21966 | 66121;66122;66123 | chr2:178575313;178575312;178575311 | chr2:179440040;179440039;179440038 |
| N2A | 21039 | 63340;63341;63342 | chr2:178575313;178575312;178575311 | chr2:179440040;179440039;179440038 |
| N2B | 14542 | 43849;43850;43851 | chr2:178575313;178575312;178575311 | chr2:179440040;179440039;179440038 |
| Novex-1 | 14667 | 44224;44225;44226 | chr2:178575313;178575312;178575311 | chr2:179440040;179440039;179440038 |
| Novex-2 | 14734 | 44425;44426;44427 | chr2:178575313;178575312;178575311 | chr2:179440040;179440039;179440038 |
| 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 | rs786205539  |
-1.884 | 1.0 | D | 0.806 | 0.819 | 0.66516836563 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 9.19118E-04 |
| A/T | rs786205539 |
-1.884 | 1.0 | D | 0.806 | 0.819 | 0.66516836563 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs786205539 |
-1.884 | 1.0 | D | 0.806 | 0.819 | 0.66516836563 | gnomAD-4.0.0 | 4.06004E-06 | None | None | None | None | N | None | 5.24182E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.20497E-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 | 0.9571 | likely_pathogenic | 0.9609 | pathogenic | -1.856 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| A/D | 0.9983 | likely_pathogenic | 0.9981 | pathogenic | -2.957 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| A/E | 0.9973 | likely_pathogenic | 0.997 | pathogenic | -2.723 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | D | 0.657109465 | None | None | N |
| A/F | 0.9971 | likely_pathogenic | 0.9969 | pathogenic | -0.692 | Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| A/G | 0.6567 | likely_pathogenic | 0.6568 | pathogenic | -2.2 | Highly Destabilizing | 1.0 | D | 0.607 | neutral | D | 0.607406587 | None | None | N |
| A/H | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -2.121 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| A/I | 0.9922 | likely_pathogenic | 0.9925 | pathogenic | -0.537 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| A/K | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -1.467 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| A/L | 0.957 | likely_pathogenic | 0.9588 | pathogenic | -0.537 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| A/M | 0.9822 | likely_pathogenic | 0.9837 | pathogenic | -1.097 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| A/N | 0.9961 | likely_pathogenic | 0.9959 | pathogenic | -1.971 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| A/P | 0.9847 | likely_pathogenic | 0.9809 | pathogenic | -0.914 | Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.624434969 | None | None | N |
| A/Q | 0.9964 | likely_pathogenic | 0.9959 | pathogenic | -1.679 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| A/R | 0.9983 | likely_pathogenic | 0.9979 | pathogenic | -1.561 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| A/S | 0.5004 | ambiguous | 0.5167 | ambiguous | -2.316 | Highly Destabilizing | 1.0 | D | 0.602 | neutral | D | 0.568261842 | None | None | N |
| A/T | 0.8911 | likely_pathogenic | 0.9106 | pathogenic | -1.974 | Destabilizing | 1.0 | D | 0.806 | deleterious | D | 0.600582731 | None | None | N |
| A/V | 0.9345 | likely_pathogenic | 0.9412 | pathogenic | -0.914 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | D | 0.623425948 | None | None | N |
| A/W | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.347 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| A/Y | 0.9986 | likely_pathogenic | 0.9985 | pathogenic | -1.053 | Destabilizing | 1.0 | D | 0.92 | 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.