Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7262 | 22009;22010;22011 | chr2:178723223;178723222;178723221 | chr2:179587950;179587949;179587948 |
| N2AB | 6945 | 21058;21059;21060 | chr2:178723223;178723222;178723221 | chr2:179587950;179587949;179587948 |
| N2A | 6018 | 18277;18278;18279 | chr2:178723223;178723222;178723221 | chr2:179587950;179587949;179587948 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | None | None | 0.285 | N | 0.386 | 0.112 | 0.200317383148 | gnomAD-4.0.0 | 3.18385E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86607E-05 | 0 |
| T/S | rs200954184  |
-0.983 | 0.166 | N | 0.419 | 0.076 | 0.15556083564 | gnomAD-2.1.1 | 6.09E-05 | None | None | None | None | N | None | 4.14E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.25739E-04 | 0 |
| T/S | rs200954184 |
-0.983 | 0.166 | N | 0.419 | 0.076 | 0.15556083564 | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 7.35E-05 | 0 | 0 |
| T/S | rs200954184 |
-0.983 | 0.166 | N | 0.419 | 0.076 | 0.15556083564 | gnomAD-4.0.0 | 3.90515E-05 | None | None | None | None | N | None | 1.33579E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25606E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0801 | likely_benign | 0.0813 | benign | -0.809 | Destabilizing | 0.285 | N | 0.386 | neutral | N | 0.488606072 | None | None | N |
| T/C | 0.3089 | likely_benign | 0.3121 | benign | -0.472 | Destabilizing | 0.991 | D | 0.517 | neutral | None | None | None | None | N |
| T/D | 0.3036 | likely_benign | 0.3152 | benign | -0.631 | Destabilizing | 0.39 | N | 0.515 | neutral | None | None | None | None | N |
| T/E | 0.2469 | likely_benign | 0.251 | benign | -0.61 | Destabilizing | 0.345 | N | 0.498 | neutral | None | None | None | None | N |
| T/F | 0.1215 | likely_benign | 0.1286 | benign | -0.721 | Destabilizing | 0.818 | D | 0.577 | neutral | None | None | None | None | N |
| T/G | 0.2554 | likely_benign | 0.2596 | benign | -1.104 | Destabilizing | 0.209 | N | 0.513 | neutral | None | None | None | None | N |
| T/H | 0.1545 | likely_benign | 0.1572 | benign | -1.394 | Destabilizing | 0.009 | N | 0.418 | neutral | None | None | None | None | N |
| T/I | 0.0865 | likely_benign | 0.0898 | benign | -0.103 | Destabilizing | 0.326 | N | 0.557 | neutral | D | 0.532944901 | None | None | N |
| T/K | 0.1312 | likely_benign | 0.1317 | benign | -0.928 | Destabilizing | 0.007 | N | 0.241 | neutral | None | None | None | None | N |
| T/L | 0.076 | likely_benign | 0.0753 | benign | -0.103 | Destabilizing | 0.209 | N | 0.485 | neutral | None | None | None | None | N |
| T/M | 0.081 | likely_benign | 0.0835 | benign | 0.187 | Stabilizing | 0.103 | N | 0.344 | neutral | None | None | None | None | N |
| T/N | 0.095 | likely_benign | 0.1007 | benign | -0.894 | Destabilizing | 0.001 | N | 0.174 | neutral | N | 0.500976336 | None | None | N |
| T/P | 0.4962 | ambiguous | 0.5159 | ambiguous | -0.305 | Destabilizing | 0.003 | N | 0.259 | neutral | D | 0.545187016 | None | None | N |
| T/Q | 0.1655 | likely_benign | 0.1669 | benign | -1.013 | Destabilizing | 0.561 | D | 0.551 | neutral | None | None | None | None | N |
| T/R | 0.0935 | likely_benign | 0.096 | benign | -0.707 | Destabilizing | 0.39 | N | 0.518 | neutral | None | None | None | None | N |
| T/S | 0.0938 | likely_benign | 0.0966 | benign | -1.105 | Destabilizing | 0.166 | N | 0.419 | neutral | N | 0.502232418 | None | None | N |
| T/V | 0.0925 | likely_benign | 0.0939 | benign | -0.305 | Destabilizing | 0.39 | N | 0.436 | neutral | None | None | None | None | N |
| T/W | 0.3732 | ambiguous | 0.4022 | ambiguous | -0.704 | Destabilizing | 0.991 | D | 0.588 | neutral | None | None | None | None | N |
| T/Y | 0.1661 | likely_benign | 0.1767 | benign | -0.485 | Destabilizing | 0.818 | D | 0.581 | 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.